Variability of Clinical Phenotype in a Large Alport Family with Gly 1143 Ser Change of Collagen α5(IV)-Chain
作者:
Alessandra Renieri,
Mietta Meroni,
Adalberto Sessa,
Graziana Battini,
Paola Serbelloni,
Laura Torri Tarelli,
Marco Seri,
Lucia Galli,
Mario De Marchi,
期刊:
Nephron
(Karger Available online 1994)
卷期:
Volume 67,
issue 4
页码: 444-449
ISSN:1660-8151
年代: 1994
DOI:10.1159/000188020
出版商: S. Karger AG
关键词: Mutation;COL4A5 gene;Type IV collagen;Glomerular basement membrane;Alport syndrome
数据来源: Karger
摘要:
In a large Italian family with adult-onset Alport syndrome, molecular analysis of the COL4A5 gene, which encodes the α5(IV)-chain of glomerular basement membrane collagen, revealed a GGC→AGC change in exon 38, resulting in substitution of a serine for a glycine in position 1143 of the polypeptide chain, between interruptions 19 and 20 of the triple helical domain. The mutation leads to loss of a restriction site for the enzyme Msp I, and could thus be easily recognized in several female and male relatives. Among relatives of both sexes who carried the same mutation, the clinical phenotype of Alport syndrome was variable as for the onset of renal failure and the presence of associated ear and eye abnormaliti
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