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Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an alport patient deletes the NC1 domain

โœ Scribed by Caiying Guo; Boudewijn Damme; Rita Damme-Lombaerts; Herman Berghe; Jean-Jacques Cassiman; Peter Marynen


Publisher
Springer
Year
1994
Tongue
English
Weight
110 KB
Volume
8
Category
Article
ISSN
0931-041X

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## Communicated by Sesgio Otrdenghi Alport's syndrome is characterized clinically by a nonimmune glomerulopathy, often accompanied by sensorineural hearing loss and lens abnormalities, frequently due to mutations in the COL4A5 gene.

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A population of 35 Alport syndrome patients, defined by strict diagnostic criteria, was screened for mutations in 23 exons of the COL4A5 gene by SSCP analysis. Mobility shifts were observed in 12 out of 35 patients and were shown to represent genuine mutations. 9 of these were glycine substitutions