期刊
HUMAN GENOMICS
卷 8, 期 -, 页码 -出版社
BMC
DOI: 10.1186/s40246-014-0019-6
关键词
Cataract; Exome sequencing; CRYGD; GJA8
资金
- National Institutes of Health (NIH) [P30 CA91842, UL1 TR000448, EY012284, EY02687]
- Research to Prevent Blindness (RPB)
Background: Inherited cataract is a clinically important and genetically heterogeneous cause of visual impairment. Typically, it presents at an early age with or without other ocular/systemic signs and lacks clear phenotype-genotype correlation rendering both clinical classification and molecular diagnosis challenging. Here we have utilized trio-based whole exome sequencing to discover mutations in candidate genes underlying autosomal dominant cataract segregating in three nuclear families. Results: In family A, we identified a recurrent heterozygous mutation in exon-2 of the gene encoding gamma D-crystallin (CRYGD; c.70C > A, p.Pro24Thr) that co-segregated with 'coralliform' lens opacities. Families B and C were found to harbor different novel variants in exon-2 of the gene coding for gap-junction protein alpha 8 (GJA8; c.20T > C, p.Leu7Pro and c.293A > C, p.His98Pro). Each novel variant co-segregated with disease and was predicted in silico to have damaging effects on protein function. Conclusions: Exome sequencing facilitates concurrent mutation-profiling of the burgeoning list of candidate genes for inherited cataract, and the results can provide enhanced clinical diagnosis and genetic counseling for affected families.
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