期刊
HUMAN MUTATION
卷 25, 期 5, 页码 423-428出版社
WILEY-LISS
DOI: 10.1002/humu.20161
关键词
eOPA1; optic atrophy 1; OPA1; autosotual dominant optic atrophy; ADOA; database
Autosomal dominant optic atrophy (ADOA), also known as Kjer disease, is characterized by moderate to severe loss of visual acuity with an insidious onset in early childhood, blue-yellow dyschromatopsia, and central scotoma. An optic atrophy gene, called OPAL, has been identified in most cases of the disease. A total of 83 OPAL mutations, often family-specific, have been reported so far, and the observations support the hypothesis that haploinsufficiency and the functional loss of a single allele may lead to ADOA. We have developed a new locus-specific database (LSDB), eOPA1 (http://lbbma.univ-angers.fr/eOPA1/) aimed at collecting published and unpublished sequence variations in OPAL. The database has been designed to incorporate new submissions rapidly and will provide a secured online catalog of OPA1 mutations and nonpathogenic sequence variants (NPSVs). The LSDB should prove useful for molecular diagnosis, large-scale mutation statistics, and the determination of original genotype-phenotype correlations in studies on ADOA. © 2005 Wiley-Liss, Inc.
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