Journal article

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

C Toomes, NJ Marchbank, DA Mackey, JE Craig, RA Newbury-Ecob, CP Bennett, CJ Vize, SP Desai, GCM Black, N Patel, M Teimory, AF Markham, CF Inglehearn, AJ Churchill

Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2001


Dominant optic atrophy (DOA) is the commonest form of inherited optic neuropathy. Although heterogeneous, a major locus has been mapped to chromosome 3q28 and the gene responsible, OPA1, was recently identified. We therefore screened a panel of 35 DOA patients for mutations in OPA1. This revealed 14 novel mutations and a further three known mutations, which together accounted for 20 of the 35 families (57%) included in this study. This more than doubles the number of OPA1 mutations reported in the literature, bringing the total to 25. These are predominantly null mutations generating truncated proteins, strongly suggesting that the mechanism underlying DOA is haploinsufficiency. The mutation..

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