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X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5

✍ Scribed by P Demosthenous; K Voskarides; K Stylianou; M Hadjigavriel; M Arsali; C Patsias; E Georgaki; P Zirogiannis; C Stavrou; E Daphnis; A Pierides; C Deltas; the Hellenic Nephrogenetics Research Consortium


Book ID
110889243
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
648 KB
Volume
81
Category
Article
ISSN
0009-9163

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Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological signs in the form of anterior lenticonus. The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the a5-chain of typ

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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