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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Giatras, I. Grünfeld, J. P. Jacassier, D. Deschênes, G. Gubler, M. C. Antignac, C. Drouot, L. Arrondel, C. Breillat, C. Forestier, L. Knebelmann, B. Broyer, M. |
| Description | Country affiliation: France Author Affiliation: Knebelmann B ( INSERM U423, Faculté de Médecine Necker-Enfants Malades, Université René Descartes, Department of Nephrology, Paris, France.) |
| Abstract | Alport syndrome is a mainly X-linked hereditary disease of basement membranes that is characterized by progressive renal failure, deafness, and ocular lesions. It is associated with mutations of the COL4A5 gene located at Xq22 and encoding the alpha5 chain of type IV collagen. We have screened 48 of the 51 exons of the COL4A5 gene by SSCP analysis and have identified 64 mutations and 10 sequence variants among 131 unrelated Alport syndrome patients. This represents a mutation-detection rate of 50%. There were no hot-spot mutations and no recurrent mutations in our population. The identified mutations were 6 nonsense mutations, 12 frameshift mutations, 17 splice-site mutations, and 29 missense mutations, 27 of the latter being glycine substitutions in the collagenous domain. Two of these occurred on the same allele in one patient and segregated with the disease in the family. We showed that some of the glycine substitutions could be associated with the lack of immunological expression of the alpha3(IV)-alpha5(IV) collagen chains in the glomerular basement membrane. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 6 |
| Volume Number | 59 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1996-12-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Collagen Genetics Frameshift Mutation Nephritis, Hereditary Point Mutation X Chromosome Adolescent Alternative Splicing Dna Primers Genetic Linkage Pedigree Phenotype Polymerase Chain Reaction Polymorphism, Single-stranded Conformational Sequence Analysis, Dna Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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