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| Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome |
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| Author(s): Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet H, Cochat P, Grunfeld JP, Palcoux JB, Gubler MC, Antignac C |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 63 Issue: 5 Pages: 1329-1340 Published: NOV 1998 |
| Times Cited: 71 References: 35 |
| Abstract: Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha 3 and alpha 4 type IV collagen chains, respectively. To date, mutation screening in the two genes has been hampered by the lack of genomic structure information. We report here the complete characterization of the 48 exons of the COL4A4 gene, a comprehensive gene screen, and the subsequent detection of 10 novel mutations in eight patients diagnosed with autosomal recessive Abort syndrome. Furthermore, we identified a glycine to alanine substitution in the collagenous domain that is apparently silent in the heterozygous carriers, in 11.5% of all control individuals, and in one control individual homozygous for this glycine substitution. There has been no previous finding of a glycine substitution that is not associated with any obvious phenotype in homozygous individuals. |
| Document Type: Article |
| Language: English |
| Reprint Address: Antignac, C (reprint author), Univ Paris 05, INSERM U423, Hop Necker Enfants Malad, Tour Lavoisier 6 Etage,149 Rue Sevres, F-75015 Paris, France |
Addresses:
1. Univ Paris 05, INSERM U423, Hop Necker Enfants Malad, F-75015 Paris, France
2. Univ Paris 05, Serv Nephrol, Hop Necker Enfants Malad, F-75015 Paris, France
3. Hop Edouard Herriot, Dept Pediat, Lyon, France
4. Hotel Dieu, Serv Pediat B, Clermont Ferrand, France |
| Publisher: UNIV CHICAGO PRESS, 5801 S ELLIS AVENUE, CHICAGO, IL 60637 USA |
| Subject Category: Genetics & Heredity |
| IDS Number: 138QZ |
| ISSN: 0002-9297 |
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