Purpose : To investigate the OPA1 gene mutation in Chinese patients with autosomal dominant optic atrophy and to describe the clinical features associated with the mutation.
Methods: Four unrelated Chinese pedigrees with autosomal dominant optic atrophy and 4 isolated cases with optic atrophy of unknown cause were included. Genomic DNA was extracted from peripheral blood. All exons of OPA1 gene and the flanking intron splice sites were sequenced directly.
Results: Four novel variations including 2 missense mutations (c.1065+2T>C and c.2846 T>C) and 2 deletions/insertions (c.1212+2insT and c.1776_1778delACT) were detected in the OPA1 gene. The OPA1 mutations were found in 3 of 4 familial cases and 1 of 4 sporadic cases of optic atrophy.
Conclusions: OPA1 gene mutations are causative in Chinese autosomal dominant optic atrophy.
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