In:
Ophthalmic Research, S. Karger AG, Vol. 35, No. 2 ( 2003), p. 71-77
Abstract:
A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the γ-crystallin encoding 〈 i 〉 CRYG 〈 /i 〉 genes have previously been demonstrated to be the most frequent reason for isolated congenital cataracts, all 4 active 〈 i 〉 CRYG 〈 /i 〉 genes have been sequenced. A single base-pair change in the 〈 i 〉 CRYGA 〈 /i 〉 gene has been shown, leading to a premature stop codon. This was not observed in 170 control individuals. However, it did not segregate with the disease phenotype. This is the first truncating mutation in an active 〈 i 〉 CRYG 〈 /i 〉 gene without a dominant phenotype. As the 〈 i 〉 CRYGA 〈 /i 〉 mutation did not explain the cataract, several other candidate loci 〈 i 〉 (CCV, GJA8, CRYBB2, BFSP2, MIP, GJA8, central pouch-like, CRYBA1) 〈 /i 〉 were investigated by microsatellite markers and linkage analysis, but they were excluded based on the combination of haplotype analysis and two-point linkage analysis. The phenotype in this family is due to a mutation in another sutural cataract gene yet to be identified.
Type of Medium:
Online Resource
ISSN:
0030-3747
,
1423-0259
Language:
English
Publisher:
S. Karger AG
Publication Date:
2003
detail.hit.zdb_id:
1483177-6
