21. Geneticagroup Medical genetics Specialty degree, University of Florence, Italy, 1998. concentrated,since several years, on molecular basis of alport syndrome, a hereditary http://www.unisi.it/ricerca/dip/bio_mol/LABORATORI/RENIERI/reniergroup.htm

Department of Molecular Biology Medical Genetics Laboratory Coordinator: Prof. Alessandra Renieri La Struttura Coworkers Dr. Francesca Ariani Dr. Mirella Bruttini Dr. Ilaria Longo Dr. Francesca Mari Dr. Ilaria Meloni Dr. Chiara Pescucci Alessandra Renieri, M.D., Ph.D. Associate Professor in Medical Genetics M.D. University of Siena, Italy, 1989 Ph.D. (Medical Genetics). University of Siena, Italy, 1993 Medical Genetics Specialty degree, University of Florence, Italy, 1998 Click here for a detailed CV Research activity My research interests focus on the causes of nephropathy and mental retardation. For the former, my laboratory is concentrated, since several years, on molecular basis of Alport syndrome, a hereditary nephropathy which may be transmitted both as X-linked as well as an autosomal recessive or autosomal dominant trait. We have performed mutation analysis in both COL4A5 gene on the X chromosome and COL4A3/COL4A4 genes on chromosome 2 in several patients. Our results suggest that the autosomal form of Alport syndrome may be a model between dominant and recessive inheritance, leading to important implications for clinical practice and genetic counseling. We have identified several novel mutations in MECP2 gene in patients with Rett syndrome, a neurodegenerative disorders affecting young girls. We have collaborated with Dr. Zappella (Neuropsychiatry, Siena) in an attempt to determine if a genotype/ phenotype correlation exists. We have found that the a benign variant of Rett phenotype, called Presereved Speech Variant, most frequently results from either missense mutations or mutations giving rise to a late truncated form of the MECP2 gene. We will now attempt to find modifier genes which may change prognosis of these patients. Also, we have recently identified a truncating mutation in MECP2, which causes XLMR in males. Thus, mutations in this gene give rise to XLMR different from Rett syndrome.

22. Ranieri Medica 2000today-Siena-University-Assistant Professor in Medical genetics Selectionof 10 X-linked alport syndrome an SSCP-based mutation survey over all 51 http://www.unisi.it/ricerca/dottorationweb/mecc-neurod-neurop-neuror-malatt-neur

Prof. A.Renieri Education/Training: 1983-Empoli-Liceo Classico-Maturità classica-final marks: 60/60. 1989-Siena-University-M.D.-final marks1 10/110 cum laude. 1990 - Sestri Levante - European School of Medical Genetics - Certification 1993 - Houston Baylor College of Medicine lab training in Molecular Genetics 1994-Siena-University-Ph.D.in Human Genetics 1998-Firenze-University-Specialist in Medical Genetics-final marks:70/70. Employment and Experience: 1993 - Houston - Molecular Genetics lab. of Prof. Ballabio, Baylor College of Medicine - lab. experience 1993-98 - Siena - Azienda ospedaliera - U.O. Genetica Medica di Prof. Ballabio - Assistente Medico 1998-00-Siena-University-Ricercatore di Genetica Medica 2000-today-Siena-University-Assistant Professor in Medical Genetics Selection of 10 publications (from a total of 48): Bassi M-T, Schaiffino V, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AAB, Lewis RA, Ballabio A Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.NatGenet10:13-19,1995. Schiaffino,MV Bassi,MT. Galli,L. Renieri,A. Bruttini,M. De Nigris,F. Bergen AA, Charles SJ, Yates JR, Meindl A. Analysis of the OA1 gene reveals mutations in only one thid of patients with X-linked ocular albinism. Hum Mol Genet. 4: 2319-2325, 1995.

23. Abstracts, Presentations, Etc. XLinked alport syndrome in a Family of Mixed Breed Dogs ML Cox, GE Lees, CE Kashtan,and KE Murphy (presented by Dr. K. Greer; Workshop on Dog genetics). http://www.cvm.tamu.edu/cgr/abstracts_presentations.htm

Home Research People News Abstracts (as .pdf files) Spring 2002 Genetic Analysis of Canine X-Linked Alport Syndrome in a Family of Mixed Breed Dogs M.L. Cox, G.E. Lees, C.E. Kashtan, and K.E. Murphy (presented by Dr. K. Greer; Workshop on Dog Genetics) Utilizing 155 Multiplexed Canine Microsatellite Markers to Screen for Linkage with Hereditary Deafness L.A. Clark*, E.J. Cargill*, J.M. Steiner, and K.E. Murphy (presented by L.A. Clark; Workshop on Dog Genetics) Genetic Cause of X-Linked Alport Syndrome in a Family of Domestic Dogs M.L. Cox, G.E. Lees, C.E. Kashtan, and K.E. Murphy (presented by M.L. Cox; see poster below; Keystone Symposia) Fall 2001 Genetic Analyses of Hereditary Deafness: A Canine Model E.J. Cargill, T.R. Famula, G.M. Strain, and K.E. Murphy (presented by E.J. Cargill; see poster below; Molecular Biology of Hearing and Deafness conference) Spring 2001 Hereditary Deafness in the Dalmatian: Analysis of Assembled Pedigree for Statistical Power and Whole Genome Screens E.J. Cargill, T.R. Famula, and K.E. Murphy (presented by E.J. Cargill; Texas Genetics Society meeting) Simultaneous Amplification of Canine and umod cDNAs through RT-PCR and RACE Posters (as .pdf files)

24. B PARENTS EXCHANGE Genetics /b Assisting Students with Albinism Alliance of Genetic Support Groups alport syndromeHome Page genetics Treacher Collins syndrome Trisomy Organization http://members.tripod.com/~pex/genetics.html

Get Five DVDs for $.49 each. Join now. Tell me when this page is updated Intro to Genetic Testing The Achromatopsia Network Get Five DVDs for $.49 each. Join now. Tell me when this page is updated Intro to Genetic Testing The Achromatopsia Network ... Return to Disability List

25. Absence Of Ocular Manifestations In Autosomal Dominant Alport Syndrome Associate Clinical genetics Service, Westmead, Australia. 3 Murdoch University, School of VeterinaryPathology, Perth, Australia. Most patients with alport syndrome have X http://www.szp.swets.nl/szp/journals/og214217.htm

Ophthalmic Genetics 2000, Vol.21, No.4, pp. 217-225 Research report Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties D. Colville , Y.Y. Wang , R. Jamieson , F. Collins , Jeni Hood and J. Savige Austin and Repatriation Medical Centre, Ophthalmology Unit, Heidelberg, Australia New Children's Hospital, Clinical Genetics Service, Westmead, Australia Murdoch University, School of Veterinary Pathology, Perth, Australia Keywords: Anterior lenticonus , autosomal dominant Alport syndrome , corneal dystrophy , dot-and-fleck retinopathy , Fechtner syndrome .

26. GeneClinics: Diseases And Overviews Mental Retardation syndrome alport syndrome Alstrom syndrome Biotinidase DeficiencyBranchiootorenal syndrome Breast Cancer genetics An Overview http://www.geneclinics.org/profiles/

Funded by NIH, HRSA, and DOE Index of Review Titles The following is a list of titles of reviews in the GeneReviews database. If your search term is not listed below, try searching for your term. A B C D ... Contact Us Children's Health System and University of Washington, Seattle Funding Support National Institutes of Health Health Resources and Services Administration US Department of Energy Technical Support University of Washington Seattle, Washington Administrative Support University of Washington School of Medicine Children's Hospital Regional Medical Center Seattle, Washington

27. GeneReviews: Diseases And Overviews Mental Retardation syndrome alport syndrome Alzheimer Disease Biotinidase DeficiencyBranchiootorenal syndrome Breast Cancer genetics An Overview http://www.geneclinics.org/profiles/all.html

University of Washington, Seattle About Search Options GeneReviews Laboratory Directory GeneReviews Index of Review Titles The following is a list of titles in the GeneReviews database. If your search term is not listed below, try searching for your term. A B C D ... Contact Us Children's Health System and University of Washington, Seattle Funding Support National Institutes of Health Health Resources and Services Administration US Department of Energy Technical Support University of Washington Seattle, Washington Administrative Support University of Washington School of Medicine Children's Hospital Regional Medical Center Seattle, Washington

28. KCL: Medical And Molecular Genetics/moleculargenetics Professor Francesco Giannelli Head of Molecular genetics Research Group Aims of the ofXlinked disease and in particular the haemophilias and alport syndrome. http://www.kcl.ac.uk/ip/ebitimiigbaseimokumo/moleculargenetics.html

Homepage Contact Search TEACHING ... POLANI RESEARCH LIBRARY Molecular Genetics Professor Francesco Giannelli Head of Molecular Genetics Research Group Aims of the Research Group: The development of procedures for the detection of mutations and DNA variations. The developmnet of national strategies to optimise genetic counselling in diseases of high mutational heterogeneity. Investigations of the molecular biology of X-linked disease and in particular the haemophilias and Alport syndrome. Mutation rates in humans and linkage disequilibrium Projects : With regard to the methodology for the detection of mutations, we are particularly concerned with the detection of unknown mutations and have worked especially on a mismatch detection method based on chemical modification and cleavage of mismatched heteroduplexes. The most advanced version of this procedure - mutliplexed, fluorescent, solid-phase chemical mismatch - allows screening for the detection and location of any sequence change at a rate of at least 0.5 Mb per person per week. We have introduced a national strategy to optimise genetic service in haemophilia B based on the construction of a confidential national database of mutations and pedigrees This allows rapid carrier and prenatal detection diagnoses to be made by detection of the gene defect specific to each family. This model is now being extended to haemophilia A, a disease affecting 1/5000 males and due to mutations in a large and complex gene.

29. Alport's Syndrome The genetics of the syndrome are quite Unfortunately, there are many varietiesof alport's syndrome and there is still some dispute about the type of http://www.kidneyindia.com/alports_syn.htm

Acute Tubular Necrosis Acute Nephritis Alport Syndrome Analgesic Nephropathy Bartter Syndrome Benign Prostatic Hyperplasia ... Minimal Change Disease MultipleMyeloma Kidney Nephrotic Syndrome Neurogenic Bladder Polycystic Kidney Disease Prostate Disease ... Prostate Cancer Primary Hyperoxaluria Pyelonephritis Renal Tubular Acidosis Renal Vein Thrombosis RPGN Radiation Kidney SLE/Lupus Nephritis Sexual dysfuctions Transplant Drugs Urinary Incontinence Urinary Tract Infection Uric Acid Kidney Vesicoureteral Reflux Vasculitis Wilms Tumor Alport's Syndrome Alport's Syndrome is a relatively uncommon genetic disease . Affected patients usually suffer from a kidney failure, nerve deafness and, very rarely, blood platelet dysfunction and eye defects.

30. BioStratum Incorporated - News About BioStratum alport syndrome is an inherited kidney disease that is highly progressive, oftenleading Genzyme genetics, a business unit of Genzyme Corporation, is a leading http://www.biostratum.com/092502.html

For Immediate Release BioStratum Announces Agreements with Genzyme for Alport Syndrome Technology and Research Agreements may lead to therapy for serious unmet medical need Research Triangle Park, N.C. - September 25, 2002 - BioStratum Incorporated, a worldwide leader in drug development based on basal lamina research, has signed an agreement granting Genzyme Corporation an option to obtain a worldwide license under BioStratum's patent rights pertaining to the diagnosis and treatment of Alport syndrome. Terms of the option agreement were not disclosed. Under a separate agreement, Genzyme will fund ongoing research under the direction of Dr. Karl Tryggvason, a founder of BioStratum and Professor of Matrix Biology at the Karolinska Institute in Stockholm, Sweden. Dr. Tryggvason is studying a potential treatment of Alport syndrome using a gene perfusion technology developed in his laboratory. Dr. Tryggvason is the discoverer of the genetic basis of the basal lamina defects in Alport syndrome. "We are delighted to be collaborating with Genzyme in the development of a gene therapy for this progressive and devastating kidney disease," stated Dr. Claus Kühl, Vice Chairman and Chief Executive Officer of BioStratum. "Patients suffering with Alport syndrome have no proven therapeutic options. By combining Genzyme's expertise in gene therapy with BioStratum's basal lamina research, we believe a therapy for Alport syndrome can eventually be developed."

31. Nature Genetics include the COL4A5 gene in alport syndrome and the raise the possibility that Pendredsyndrome is either 1 Department of genetics and Department of Medicine http://www.nature.com/ng/wilma/v12n4.867856928.html

letters RETURN TO April 1996 TABLE OF CONTENTS volume 12 number 4 page 421 Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene Beth Coyle , Rebecca Coffey , John A.L. Armour , Eleanor Gausden , Ze'ev Hochberg , Ashley Grossman , Keith Britton , Marcus Pembrey , William Reardon Inherited causes account for about 50% of individuals presenting with childhood (prelingual) hearing loss, of which 70% are due to mutation in numerous single genes which impair auditory function alone (non-syndromic) . The remainder are associated with other developmental anomalies termed syndromic deafness. Genes responsible for syndromic forms of hearing loss include the gene in Alport syndrome and the and MITF genes in Waardenburg syndrome . Pendred syndrome is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss and diffuse thyroid enlargement (goitre) . Pendred syndrome is the most common syndromal form of deafness, yet the primary defect remains unknown. We have established a panel of 12 families with two or more affected individuals and used them to search for the location of the Pendred gene by linkage analysis. We excluded localization to four previously mapped nonsyndromic deafness loci but obtained conclusive evidence for linkage of the Pendred syndrome gene to microsatellite markers on chromosome 7q31 ( Z max 7.32, Q

32. Alport's Syndrome alport's syndrome Kidney Foundation of Canada - General overview of the diseaseincludes details on the genetics, symptoms, detection and treatment of this http://www.health-nexus.com/alport's_syndrome.htm

Health-Nexus.Net Health-Nexus.Org The #1 Health information site Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Alport's Syndrome Alport's Syndrome - Kidney Foundation of Canada General overview of the disease includes details on the genetics, symptoms, detection and treatment of this renal affliction. Alport Syndrome Home Page ... KEYWORDS: Alport or Alport's syndrome, basement membranes, COL4A3, COL4A4, COL4A5and COL4A6 genes, collagen, deafness, dialysis, end-stage renal disease (ESRD ... Alport's Syndrome Alport's Syndrome: MediFocus MedCenter Preview for Alport's Syndrome Alport's Syndrome: MediFocus MedCenter Preview for Alport's Syndrome ... B Hepatitis C Lyme Disease Shingles Nephrology Alport's Syndrome Hypertension Polycystic Kidney Disease Renal Calculi ... Alport's Syndrome The Medifocus Guide on Alports Syndrome provides answers to the following important questions and medical issues: What are the most common symptoms of Alport's Syndrome? Are there any recognized risk factors for developing Alports Syndrome?

33. EMedicine - Alport Syndrome : Article By Ramesh Saxena, MD, PhD many more families were described, and the eponym alport syndrome (AS) was coined Despiteremarkable advances in delineating the molecular genetics of AS, the http://www.emedicine.com/med/topic110.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Medicine, Ob/Gyn, Psychiatry, and Surgery Nephrology Alport Syndrome Last Updated: August 14, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: AS, hereditary nephritis, deafness, hematuria, type IV collagen, end-stage renal disease, ESRD, glomerular basement membrane, GBM, tubular basement membrane, TBM, autosomal dominant Alport syndrome, ADAS, autosomal recessive Alport syndrome, ARAS, X-linked Alport syndrome, XLAS, leiomyomatosis, anterior lenticonus, dot-and-fleck retinopathy, proteinuria AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Ramesh Saxena, MD, PhD , Assistant Professor, Department of Internal Medicine, Division of Nephrology, University of Texas, Southwestern Medical Center Ramesh Saxena, MD, PhD, is a member of the following medical societies: American Medical Association American Society of Nephrology , and International Society of Nephrology Editor(s): Frank C Brosius III, MD

34. Ustav Biologie A Lekarske Genetiky 2.LF UK A FNM Internal Grant Agency (IGA MZ ÈR) Molecular genetics diagnostics of Turner syndrome- method of in COL4A5 geny in patients with alport syndrome.(IGA 3783-3 http://camelot.lf2.cuni.cz/funkovai/ublg/e_research.html

Research projects of the 2. School of Medicine "Longitudinal, comprehensive, clinical and genetic study of prenatal and postnatal development of patients and their families with the most serious inborn errors and inherited disorders. Projects from the IBMG that are encompassed in the below 2.School of Medicine research projects: Diagnosis of inborn and inherited glomerulal disorders Improvement of reproductive genetics Neurogenetic diagnosis of spinocerebellar ataxias and neurodegenerative disorders Genotype-phenotype correlations in neuromuscular diseases with a genetic component Molecular genetic diagnosis and prevention of thrombembolic conditions. CFTR gene mutation analysis in human infertility, gastrointestinal and lung diseases of yet unknown etiology. Differential diagnosis of familiar nephropathies: clinical and molecular genetic analyses Genotype-phenotype correlations in microdeletion syndromes Molecular genetic aspects of cell signaling in oncogenesis: the influence of tyrosinekinases on cell proliferation See also Detailed description (in Czech) Detailed description of particular research projects of IBMG Centers CF Centrum Neurogenetic Centrum Laboratory of reproductive genetics Oncogenetic laboratory - Biological Unit ... List of grant projects of IBMG A/ FUNDING OF IBMG Funding of the center from budget of the 2nd Medical School of Charles University, Prague per year

35. Diseases achon.htm. alport syndrome Boystown Hospital http//www.boystownhospital.org/parents/info/genetics/alport.asp.Apert syndrome World http://www.widhh.com/diseases.htm

Click On Any Of The Following Links For More Information Related To Diseases, Disorders, and Syndromes: **IMPORTANT** The information contained in the Western Institute for the Deaf and Hard of Hearing (WIDHH) website is provided for informational purposes only. There is no implied endorsement by WIDHH. WIDHH does not promote or endorse participation in any specific organization. The information is subject to change without notice. Every effort is made to ensure that the details for each entry are as current as possible. DISEASES Acoustic Neuroma University of California, San Francisco Info on Acoustic Neuroma website: http://itsa.ucsf.edu/~rkj/IndexAN.html Seattle Acoustic Neuroma Group http://acousticneuromaseattle.org/entryenglish.html Acoustic Neuroma Association of Canada http://www.anac.ca/ Meniere's Disease Meniere's Online Support Group www.menieres.org Ear Surgery Information Centre - Meniere's Information www.earsurgery.org/meniere.html Neurofibromatosis The National Neurofibromatosis Foundation, Inc. www.nf.org

36. SpringerLink: Pediatric Nephrology - Abstract Volume 14 Issue 6 (2000) Pp 502-51 the disease. Key words alport syndrome · Molecular genetics · Heterogeneity· Extrarenal disease. Article in PDF format (74 KB). http://link.springer-ny.com/link/service/journals/00467/bibs/0014006/00140502.ht

Pediatric Nephrology ISSN: 0931-041X (printed version) ISSN: 1432-198X (electronic version) Table of Contents Abstract Volume 14 Issue 6 (2000) pp 502-512 basic science review : Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis C. E. Kashtan (1)(2) (1) University of Minnesota Medical School, Department of Pediatrics, Division of Pediatric Nephrology, Minneapolis, Minnesota, USA (2) University of Minnesota Medical School, Box 491, 515 Delaware Street SE, Minneapolis, MN 55455, USA e-mail: kasht001@maroon.tc.umn.edu Tel.: +1-612-6249193, Fax: +1-612-6262791 Received: 5 August 1999 / Revised: 25 October 1999 / Accepted: 25 October 1999 Abstract Alport syndrome is a primary genetic disease of basement membranes, manifested clinically as a progressive nephropathy variably associated with sensorineural deafness and a plethora of ocular abnormalities. The long-recognized phenotypic heterogeneity of Alport syndrome may be considered on several levels, including basement membrane biochemistry, basement membrane ultrastructure, the natural history of the nephropathy, and the occurrence of extrarenal abnormalities. This review discusses the possible molecular bases for the heterogeneity. The discussion draws upon recent insights into the molecular genetics of Alport syndrome, and the biochemistry of normal and Alport syndrome basement membranes, in order to provide a framework for understanding the variable renal and extrarenal manifestations of the disease. Key words

37. Abstract (2), genetics Centre, Guy's Hospital, London. Abstract. The Xlinked formof alport syndrome is caused by mutations in the COL4A5 gene in Xq22. http://link.springer-ny.com/link/service/journals/00439/contents/02/00830/s00439

Original Investigation Unusual deep intronic mutations in the gene cause X linked Alport syndrome Kathy King , Frances A. Flinter , Vandana Nihalani and Peter M. Green Division of Medical and Molecular Genetics, 7th Floor Guy's Tower, GKT school of Medicine, King's College, SE1 9RT London, UK Genetics Centre, Guy's Hospital, London Abstract. The X-linked form of Alport syndrome is caused by mutations in the gene in Xq22. This large multiexonic gene has, in the past, been difficult to screen, with several studies detecting only about 50% of mutations. We report three novel intronic mutations that may, in part, explain this poor success rate and demonstrate that single base changes deep within introns can, and do, cause disease: one mutation creates a new donor splice site within an intron resulting in the inclusion of a novel in-frame cryptic exon; a second mutation results in a new exon splice enhancer sequence (ESE) that promotes splicing of a cryptic exon containing a stop codon; a third patient exhibits exon skipping as a result of a base substitution within the polypyrimidine tract that precedes the acceptor splice site. All three cases would have been missed using an exon-by-exon DNA screening approach. E-mail: peter.green@kcl.ac.uk

38. SpringerLink: Human Genetics - Table Of Contents Vol. 99 Issue 5 Human genetics. Joyce C. Denison, Curtis L. Atkin, Martin C. Gregory Common ancestryof three AshkenaziAmerican families with alport syndrome and COL4A5 http://link.springer.de/link/service/journals/00439/tocs/t7099005.htm

Human Genetics ISSN: 0340-6717 (printed version) ISSN: 1432-1203 (electronic version) Table of Contents Vol. 99 Issue 5 Markers for the gene ob and serum leptin levels in human morbid obesity Hum Genet Article in pdf format Possible association of the allele status of the CS.7/ Hha I polymorphism 5' of the ... gene with postnatal female survival Hum Genet Article in pdf format Jianping Li, Sadahiko Iwamoto, Naoya Sugimoto, Hiroshi Okuda, E. Kajii: Dinucleotide repeat in the 3' flanking region provides a clue to the molecular evolution of the Duffy gene Hum Genet Article in pdf format Wanguo Liu, Juliette Faraco, Chiping Qian, U. Francke: The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan syndrome Hum Genet Article in pdf format S. E. Lloyd, J. T. Pang, S. H. S. Pearce, S. E. A. Leigh, R. V. Thakker: Exclusion of ZFM1 as a candidate gene for multiple endocrine neoplasia type 1 (MEN1) Hum Genet Article in pdf format Yuriko Mori, Hiromi Shiwaku, Shinichi Fukushige, Shigeru Wakatsuki, Masami Sato, Toshihiro Nukiwa, A. Horii: Alternative splicing of in normal human tissues Hum Genet Article in pdf format M. Erdel, Hans-Christoph Duba, Irmgard Verdorfer, Arno Lingenhel, Ralf Geiger, Karl-Heinz Gutenberger, Edgar Ludescher, Barbara Utermann, Gerd Utermann:

39. Basement Membrane Diseases for the g2 subunit of nicein/kalinin (Laminin5). Nature genetics 6, 299 in vivo kidneyperfusion system Ð First steps towards gene therapy of alport syndrome. http://www.mbb.ki.se/matrix/bdise.html

Basement Membrane Diseases The group described the first genetic BM diseases by showing mutations in type IV collagen in Alport syndrome (hereditary nephritis) and diffuse leiomyomatosis. Furthermore, the first laminin was demonstrated by finding mutations in the novel g 2 chain of the laminin-5 isoform in disease junctional epidermolysis bullosa, and defects in the laminin a 2 chain was shown in congenital muscular dystrophy. The gene for congenital nephrotic syndrome was also found by positional cloning. This work has enabled the development of DNA-based diagnostic methods for these diseases. At the present, members of the group are developing gene therapy for Alport syndrome and have been successful in obtaining efficient in vivo gene transfer into kidney glomeruli in experimental animals. Selected references: 1. Barker, D., Hostikka, S.L., Zhou, J., Chow, L.T., Oliphant, A.R., Gerken, S.C., Gregory, M.C., Skolnick, M.H., Atkin, C.L. and Tryggvason, K.: Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248, 1224-1227, 1990.

40. UK NKF - Should Members Of The Family Have Tests To Look For Alport's Syndrome? This description of the inheritance of alport's syndrome applies to the 9 out of10 more complicated, and advice should be taken from a specialist in genetics. http://www.kidney.org.uk/Medical-Info/alports/tests.html

Alport's Syndrome Should members of the family have tests to look for Alport's Syndrome? This description of the inheritance of Alport's syndrome applies to the 9 out of 10 families who have the commoner genetic problem. Some families are more complicated, and advice should be taken from a specialist in genetics. The need for testing family members will be discussed from the point of view of a man with Alport's syndrome, and then from the point of view of a woman with Alport's syndrome. Who to test if a man has Alport's syndrome His parents Alport's syndrome should have been inherited from his mother, though occasionally the genetic abnormality has occurred for the first time in the affected person. His mother should have urine tests for blood. If there is blood in the urine, kidney function and blood pressure should be tested, and a kidney specialist consulted. If the mother is completely clear, the father should be checked, in case there is a rarer variant of Alport's syndrome. His brothers There is a 50:50 chance that a brother will have Alport's syndrome. Urine should be tested for blood. If he has blood in the urine, kidney function and blood pressure should be measured, and a kidney specialist consulted. A brother might have Alport's syndrome, and could pass this onto his daughters. If there is no blood in the urine on several tests, he should not have the Alport's syndrome gene, and so cannot pass the condition onto his children.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 94    Back | 1  | 2  | 3  | 4  | 5  | Next 20