全外显子组测序在印度莱伯先天性黑蒙患者中鉴定出两个新的ALMS1突变。
Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis.
作者信息
Srikrupa Natarajan N, Sripriya Sarangapani, Pavithra Suriyanarayanan, Sen Parveen, Gupta Ravi, Mathavan Sinnakaruppan
机构信息
SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India.
School of Chemical and Biotechnology, SASTRA deemed to-be University, Thanjavur, India.
出版信息
Hum Genome Var. 2021 Mar 29;8(1):12. doi: 10.1038/s41439-021-00143-z.
Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs*63) mutations in the ALMS1 gene. Although ALMS1 gene mutations are associated with Alstrom syndrome (AS), the current patients did not exhibit typical syndromic features of AS. These data suggest that ALMS1 should be included in the candidate gene panel for LCA to improve diagnostic efficiency.
莱伯先天性黑蒙（LCA）是一种严重的常染色体隐性视网膜退行性疾病。当前研究描述了两名不相关的印度LCA患者的外显子组测序结果，这两名患者在ALMS1基因中携带新的无义突变p.(Glu636*)和移码突变p.(Pro2281Leufs*63)。尽管ALMS1基因突变与阿尔斯特伦综合征（AS）相关，但当前患者并未表现出AS的典型综合征特征。这些数据表明，应将ALMS1纳入LCA的候选基因 panel 中，以提高诊断效率。
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