期刊
JAMA OPHTHALMOLOGY
卷 132, 期 8, 页码 1002-1004出版社
AMER MEDICAL ASSOC
DOI: 10.1001/jamaophthalmol.2014.983
关键词
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资金
- Netherlands Organization for Scientific Research [91209047]
- Algemene Nederlandse Vereniging ter Voorkoming van Blindheid
- Gelderse Blinden Stichting
- Landelijke Stichting voor Blinden en Slechtzienden
- Macula Degeneratie Fonds
- Rotterdamse Stichting Blindenbelangen
- Stichting Blinden-Penning
IMPORTANCE The NMNAT1 gene was recently found to be mutated in a subset of patients with Leber congenitalamaurosis and macular atrophy. The most prevalent NMNAT1 variant was p.G1u257Lys, which was observed in 38 of 106 alleles (35.8%). On the basis of functional assays, it Was deemed a severe variant. OBSERVATIONS The p.Glu257Lys variant was 80-fold less frequent in a homozygous state in patients with Leber congenital amaurosis than predicted based on its heterozygosity frequency in the European American population. Moreover, we identified this variant in a homozygous state in a patient with no ocularabnormalities. CONCLUSIONS AND RELEVANCE On the basis of these results, the p.Glu257Lys variant is considered not fully penetrant. Homo zygotes of the p Glu257Lys variant in most persons are therefore not associated with ocular disease. Consequently, genetic counselors should exerdse great caution in the interpretation of this variant.
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