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Alport Syndrome Genetics: more detail

Molecular Pathology and Genetics of Alport Syndrome (Contributions to Nephrology)
The Molecular Genetics of X-Linked Alport Syndrome (Acta Biomedica Lovaniensia) by Caiying Guo, 1995-11
Familial nephritis: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Maria, PhD Basile, 2005
Hereditary nephropathy with hearing loss: "Alport's syndrome" (Acta paediatrica Scandinavica : Supplement) by Ulla Marianne Iversen, 1974

lists with details

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

Extractions: 2000, Vol.21, No.4, pp. 217-225 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
JN 2003; Vol.16 N°2: 314-316
Francesca Mari, Alessandra Renieri Medical genetics, Department of Molecular Biology,University of Siena, Siena - Italy. ABSTRACT alport syndrome (ATS) is a
http://www.sin-italia.org/jnonline/vol16n2/314.html

Extractions: Table of Contents Meeting Proceeding J NEPHROL 2003; 16: 314-316 Type-IV collagen related diseases Chiara Pescucci, Ilaria Longo, Mirella Bruttini, Francesca Mari, Alessandra Renieri - Medical Genetics, Department of Molecular Biology, University of Siena, Siena - Italy Key words: Alport syndrome, COL4A4, COL4A3, COL4A5, Collagen IV, Benign familial hematuria We performed a comprehensive mutation screen of COL4A3 and COL4A4, which allowed us to detect eight novel mutations in six out of 36 Italian families (10). Together with cases displaying typical features of recessive ATS, i.e. rapidly sex-independent progressive nephritis or parental consanguinity, the study included sporadic male and female patients who had tested negative for COL4A5 mutations. Our analysis of COL4A3 and COL4A4 resulted in the identification of many changes, among which only eight could be confidently considered pathogenic. None were in a homozygous state, which would have been useful to evaluate their role: in COL4A3 four mutations were found in compound heterozygotes and three in simple heterozygotes, as the single COL4A4 mutation. COL4A3 and COL4A4 mutations can be classified in two groups expected to cause either the production of an abnormal alpha-chain or to reduce its synthesis, and operationally sub-divided as to whether they are present alone likely autosomal dominant, or belong to compound heterozygous genotypes likely autosomal recessive. While in recessive cases both null- and abnormal-chain mutations are found, the dominant inheritance seems limited to mutations predicted to result in the production of an abnormal chain. This hypothesis agrees with the observation that the only reported autosomal dominant ATS family had a large in-frame deletion of the alpha3(IV) chain, resulting from the skipping of exon 21 (9).
JN 2002; Vol.15 N°3: 320-323
Molecular genetics has considerably clarified the field of hereditary nephritis MYH9disease ) must be clearly differentiated from alport syndrome (type IV
http://www.sin-italia.org/jnonline/Vol15n3/320.html

Extractions: Table of Contents Case report J NEPHROL 2002; 15: 320-323 Hereditary nephritis with macrothrombocytopenia: Phenotypic variety and the genotypic defect Carlo Basile , Palmira Schiavone , Laurence Heidet , Jean-Pierre Grünfeld Division of Nephrology, Hospital of Martina Franca - Italy INSERM U423, Hôpital Necker, Paris - France Service de Néphrologie, Hôpital Necker, Paris - France ABSTRACT: A number of patients present to nephrologists with end-stage renal failure of unknown cause and many have small kidneys, making renal biopsy inadvisable. A small number may have clues to the diagnosis of hereditary nephritis, as in the patient we present here. The propositus was a 22-year-old man, who was admitted to our nephrology ward because of recently discovered renal insufficiency. Ultrasound examination revealed bilateral small kidneys. He was severely hypertensive; audiometry and ophthalmic examinations were normal. Thrombocytopenia with giant platelets was observed in peripheral blood smears. Basophilic cytoplasmic inclusions (Döhle-like bodies) were present in neutrophil and basophilic granulocytes. A family history of nephropathy associated with macrothrombocytopenia was obtained. Epstein syndrome was diagnosed, a rare autosomal dominant disorder. He started hemodialysis and subsequently received a living donor kidney transplant (from his mother). Molecular genetics has considerably clarified the field of hereditary nephritis associated with macrothrombocytopenia by demonstrating that these syndromes involve a similar molecular defect. It was first shown that these syndromes were linked to the same locus on chromosome 22q. Then the gene involved encoding non - muscle myosin heavy chain 9 (MYH9) was identified. This entity ("MYH9 disease") must be clearly differentiated from Alport syndrome (type IV collagen disease).
CDS 605
12. Rm. 908 Congenital atresia. genetics of Inner ear development and formation Ch.4 Gerber. alport syndrome. Branchiooto-renal (BOR) syndrome. CHARGE Association.
http://www.rushu.rush.edu/syllabi/cds/cds-605/

Extractions: CDS 605Winter 2003 Instructor: Dawn Konrad-Martin, Ph.D., CCC-A Time: Fridays 1:00 3:50 p.m. Location: Rooms 908 and 1098 Armour Credits: 3 QH Office: 1015 Armour Office Hrs: Mondays 12:00-2:45 p.m. or by appointment Phone: Email: Dawn_Konrad-Martin@rush.edu This course introduces basic principles of genetics as well as auditory, vestibular, and craniofacial embryology. Congenital (genetic and multifactoral) auditory disorders will be discussed, including the spectrum of hereditary syndromes common to individuals with hearing loss. Strategies for referral to genetic counselors and other health care professionals will be included. Discussion of the Human Genome Project and current developments will be included. Describe basic human genetics and Mendelian inheritance Describe some ethical/legal implications of medical genetics Describe basic embryologic development of the head and neck Describe basic embryologic development of the auditory system Be able to recognize when a condition is potentially genetic or has a genetic component Recognize common genetic syndromes Be able to obtain a genetic family history Be able to discuss genetic hearing loss with clients Make appropriate referrals for genetic counseling and genetic testing Gerber, S. E. (2001)
Info Spec'99
and the alport syndrome, which again involves many genes. Even whether a gene isdominant or recessiveone of the die-hard concepts in medical genetics-needs
http://www.mednet.ca/html/info-spec9912.htm

Extractions: Assemblée annuelle Cancer patients looking for a leader Cancer patients need someone to take up a leadership role so as to provide them with the best possible care. Surgeons are in a good position to provide that leadership, according to Dr. Murray Brennan, Benno C. Schmidt Chair of Clinical Oncology, Memorial Sloan-Kettering Cancer Center, New York. As Dr. Brennan pointed out in a preview of his wide-ranging CAGS lecture, cancer patients have all sorts of specialists, especially in the U.S., but nobody is in charge, "so they get lost." Should the surgeon wish to pick up responsibility for cancer patients, that responsibility must come with an understanding that his or her leadership role must be disease-based, not discipline-based, knowledge-based, or technique-based. An ideal way to begin acquiring that knowledge is to establish data bases of patients with specific types of cancer so that the disease can be fully understood in all of its manifestations from etiology to outcome. "Before we start [treating a patient with cancer], we have to know what the treatments are and what the alternatives are, and we have to be willing to take care of patients whenever the treatment we use doesn't work," he added. Making matters worse, most of the changes taking place in medicine today are "patient-unfriendly."
Brazilian Journal Of Medical And Biological Research -
1. Hasstedt SJ, Atkin CL San Juan Jr AC (1986). Genetic heterogeneity among kindredswith alport s syndrome. American Journal of Human genetics, 38 940953.
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000400010&l
Entrez PubMed
mutations in the COL4A5 gene cause X linked alport syndrome. King K, Flinter FA,Nihalani V, Green PM. Division of Medical and Molecular genetics, 7th Floor
http://www.facultyof1000.com/pubmed/12436246

Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order
Entrez PubMed
Schaffer JE, Renieri A. Medical genetics, Department of the contiguous gene deletionsyndrome ATSMR (previously known as alport syndrome, mental retardation
http://www.facultyof1000.com/pubmed/11889465

Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order
European Genetics Foundation
Casari G. (Milan) Molecular genetics of autosomal dominant medullary cystic FlinterF. (London) - Clinical diagnostic aspect of alport s syndrome Karet FE
http://www.csd.cineca.it/eurogene/eng/courses/progs/2000/renal.html
Arch Intern Med -- Topic Collections : Genetics
genetics Immunohistochemical and Molecular Genetic Evidence for Type IV Collagen5 Chain Abnormality in the Anterior Lenticonus Associated With alport syndrome
http://archinte.ama-assn.org/cgi/collection/genet?notjournal=archinte,amajnls&pa
Wellcome Trust Centre For Human Genetics - Template
kidney disease (Modpkdr1) in the HanSPRD(cy/+) rat in a region conserved with amouse modifier locus for alport syndrome. Nature genetics 22 226228 (1999).
http://www.well.ox.ac.uk/~gdomi/pubQTL.shtml

Extractions: home about research ... vacancies Genetics of Complex Traits in Model Organisms Gauguier group QTL Mapping of Complex Phenotypes in Rodents Relevant publications Ramanathan S, Bihoreau MT, Patterson A, Marandi L, Gauguier D, Poussier P. Thymectomy and radiation induced type 1 diabetes in non-lymphopenic BB rats. Diabetes in press Gauguier D, Samani NJ. Approaches to the analysis of complex quantitative phenotypes and marker map construction based on the analysis of rat models of hypertension. In Quantitative Trait Loci, Methods and Protocols. N Camp, A Cox Eds. Humana Press, Totowa NJ, USA. pp225-251 (2002) Bihoreau MT, Megel N, Brown JH, Kränzlin B, Crombez L, Tychinskaya Y, Broxholme J, Kratz S, Bergmann V, Hoffman S, Gauguier D, Gretz N. Characterisation of a major modifier locus for polycystic kidney disease (Modpkdr1) in the Han:SPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndrome. Hum. Mol. Genet. Ji H, Gauguier D, Ohmura K, Gonzalez A, Duchatelle V, Danoy P, Garchon HJ, Degott C, Lathrop M, Benoist C, Mathis D. Genetic influences on the end-stage effector phase of arthritis. J.Exp.Med.
FACL4, Encoding Fatty Acid-CoA Ligase 4, Is Mutated In Nonspecific X-linked Ment
hypoplasia, elliptocytosis, OMIM 300194), characterized by alport syndrome (ATS)and 1. Medical genetics, Department of Molecular Biology, University of Siena
http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v30/n4/abs/ng857.htm
Medical Genetics Publications
Autosomal dominant alport syndrome linked to the type IV collage alpha3 and alpha4genes (COL4A3 and COL4A4). Human Molecular genetics 1996; 5 705708.
http://www.med.qub.ac.uk/staff/publications-dept.asp?dept=10
EDU2 : Level 3
MEDICAL genetics*. A Collaborative Study of the genetics of Anorexia Nervosaand Bulimia Nervosa; alport syndrome Home Pageclinical genetics;
http://www.my-edu2.com/EDU/genet1.htm

Extractions: EDU2 :ZOO-GENETICS ABCentral Search Helpers Submit a Link ... TRANSGENIC *ANIMAL* A Xenopus laevis database :and genes ANEX - Laboratory Animal Data Base (English) Animal Genome Database in JAPAN Animal Improvement Programs Laboratory (AIPL) ... cattle Genome Map Table of Contents *DEVELOPMENTAL* Bio 185L Experiments in Development and Molecular Genetics Davidson Development lab:gene Developmental Genome Anatomy Project:human Mitosis and Cytokinesis Lab:hs ... Wnt genes:and embryogenesis *DROSOPHILA* Berkeley Drosophila Group Drosophila Genome Project FlyView Home:drosophila genetics Lucchesi Lab Research Interests:gene regulation in drosophila ... The Interactive Fly: A cyberspace guide to Drosophila development:gene *ELEGANS* Caenorhabditis Genetics Center Home Page Caenorhabditis Genetics The Blaxter nematode Lab at ICAPB:nematode genetics Wadsworth's Wonderful Worms:elegans *FISH* FUGU Genome Project HGMP Resource Centre FUGU Project:fish genetics Medakafish Home Page:gene The Zebrafish Server: and genetics ... Wanda: A database of duplicated genes in fish *HUMAN* Biobase / Julio Celis Database :Danish human genome research CHROMOSOME 16 - Center for Human Genome Studies, Los Alamos
The Genetics Of Infant Hearing Loss : Sound Ideas Newsletter (Volume 3, No. 3)
syndrome, Main Features (besides deafness). alport, Kidney problems. Recent discoveriesabout the genetics of hearing loss have substantially increased the
http://www.infanthearing.org/newsletter/v3n3/genetics.html

Extractions: Volume 3, No. 3 (((SOUND IDEAS December 2001 The Genetics of Infant Hearing Loss Printer Friendly Version About three in every 1,000 newborns has a permanent hearing loss. About 50% of these losses are thought to be due to environmental factors, such as bacterial or viral infections such as rubella or CMV or the use of ototoxic drugs such as aminoglycosides. Other times, the cause is genetic and is due to changes in the genes involved in the hearing process. In about 30% of babies with a hearing loss, the loss is part of a syndrome, meaning that these babies have other medical problems. More than 400 syndromes have now been identified which can cause hearing loss (e.g., Waardenburg, Usher, Pendred, Alport, etc.). The other 70% of cases are non-syndromic, which means that the baby does not have any other medical problems. Common Forms of Syndromic Deafness Syndrome Main Features (besides deafness) Alport Kidney problems Branchio-oto-renal Neck cysts and kidney problems Jervell and Lange-Nielsen Heart problems Neurofibromatosis Type 2 Nerve tumors near the ear Pendred Thyroid enlargement Stickler Unusual facial features, eye problems, arthritis
Gale Encyclopedia Of Medicine Alport Syndrome
Submit a Site. Advanced Search · Help. You are HereArticles Gale Encyclopedia of Medicine Article. Sponsored Links. Content provided in partnership with. Print article Tell a friend Find subscription deals. alport syndrome alport syndrome affects about one in 5 000 Americans, striking alport syndrome in most cases is caused by a defect
http://www.findarticles.com/cf_0/g2601/0000/2601000051/p1/article.jhtml?term=kid
BBC - A-Z Illnesses And Conditions - Topics Listed Alphabetically
HIV; Albinism; Alcohol; Allergy; Allergy (children); Alpha1 AntitrypsisDeficiency (AAT); alport syndrome; Altitude sickness; Alzheimer s
http://www.bbc.co.uk/health/features/vision_problems.shtml

Extractions: A - Z A B C D ... P Q R S T U ... Y Z A A B C ... P Q R S T U ... Y Z K Kabuki Syndrome Kawasaki Klinefelter Kugelberg-Welander Disease ... P Q R S T U ... Y Z L Legionnaires Leigh's Disease/Syndrome Leukaemia Lichen planus ... P Q R S T U ... Y Z M Malaria Mania Manic Depression Marfan Syndrome ... P Q R S T U ... Y Z N Nappy rash (children) Narcolepsy Nephritis Neurofibromatosis ... P Q
Program In Genetics And Development: Barbara Pober
Clinical genetics; Dysmorphology; Williams syndrome. I am a Dysmorphologist Alportsyndrome, mental retardation, midface hypoplasia, and elliptocytosis a new X
http://info.med.yale.edu/genetics/gendev/faculty/pober.html

Extractions: I am a Dysmorphologist/Clinical Geneticist involved in diagnosis and counselling for birth defects and inherited disorders. My major research focuses on a rare genetic microdeletion disorder, Williams syndrome. From my involvement in the diagnosis and management of large numbers of patients with Williams syndrome, several clinical studies on the natural history of this disorder have emerged. Clinical information and patient samples are being provided in a collaborative fashion to assist in the delineation of the Williams syndrome critical region. Current information suggests that the Williams syndrome deletion is >100 kb in size, involving loss of the gene, elastin, and additional flanking genes as well. Thus, Williams syndrome is likely to be another example of a contiguous gene deletion syndrome. Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HHQ, Costa T, Pober BR, Lew L, Brinkman J, Rommens J, Koop B, and Tsui LC.
Genes At Work - Topics In Genetics
Back. The genetics Of Deafness by Beth A. Pletcher, MD, November 1999. alport syndromeis an autosomal dominant or Xlinked dominant condition associated with
http://www.umdnj.edu/genesatwork/topics/pediatrics/03_pediatrics.htm

Extractions: by Beth A. Pletcher, MD, November 1999 It may be hard to believe, but almost 7% of the population of the United States is deaf or hearing impaired. This amounts to about 20 million people across the country. You might say that this makes sense when one considers the ever increasing population of senior citizens, but you may be surprised to learn that 50% of severe to profound hearing impairment is genetically determined. Other Mendelian disorders that have hearing loss as a frequent component include: In addition to these conditions, there are many more multiple anomaly, biochemical and cytogenetic disorders that have hearing loss as a common finding. For a child with congenital hearing loss a number of simple screening tools can be employed to rule out some of these conditions that have additional medical implications. A reasonable work-up for an infant or child with significant hearing loss without obvious cause would include: Genes at Work Home UMDNJ Home Top of page
Bjrm2no3
Frances A Flinter MD FRCP FRCPCH Senior Lecturer and Honorary Consultant in ClinicalGenetics, Guy s Hospital, London alport s syndrome (AS) is an inherited
http://www.hayward.co.uk/hmc_index/bjr/bjrm2no3.htm

Extractions: back to article index Volume 2, Number 3, Autumn 1997 Opting for pre-emptive transplantation Symbolic play in post-transplant recovery Monitoring renal patients' quality of life What I tell my patients about Alport's syndrome ... Developing a protocol for clinical practice Judith Argles MA CQSW Dip Soc Studies Paediatric Renal Social Worker Johanne Anderson MSc BSc DipHE RN(Child) Staff Nurse, Children and Young Person's Kidney Unit, Nottingham City Hospital NHS Trust Pre-emptive transplantation (PET) is a treatment option offered by 70% of UK renal units to children with chronic renal failure who are approaching the need for renal replacement therapy. Dialysis is avoided by planning intervention before the child develops symptoms. Pre-emptive transplantation is offered by 70% of UK renal units and should be seriously considered for children approaching end-stage renal failure. PET has many social, psychological and physical benefits, including avoiding the complications of bone disease, nutritional problems and anaemia that are associated with dialysis. A team strategy is essential when preparing a family for PET - the family should ideally have regular discussions with the nephrologist, dietitian, social worker and community nurse.

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