例如:"lncRNA", "apoptosis", "WRKY"

A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing.

Gene. 2015 Sep 10;569(1):104-8. Epub 2015 May 16
Ying Deng 1 , Hui Huang 2 , Yanping Wang 3 , Zhen Liu 1 , Nana Li 1 , Yanhua Chen 4 , Xin Li 2 , Mingrong Li 3 , Xiaobo Zhou 5 , Dezhi Mu 6 , Jing Zhong 2 , Jing Wu 2 , Yan Su 2 , Xin Yi 2 , Jun Zhu 7
Ying Deng 1 , Hui Huang 2 , Yanping Wang 3 , Zhen Liu 1 , Nana Li 1 , Yanhua Chen 4 , Xin Li 2 , Mingrong Li 3 , Xiaobo Zhou 5 , Dezhi Mu 6 , Jing Zhong 2 , Jing Wu 2 , Yan Su 2 , Xin Yi 2 , Jun Zhu 7
+ et al

[No authors listed]

Author information
  • 1 National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China; Laboratory of Molecular Epidemiology for Birth Defect, West China Institute of Women and Children's Health, Sichuan University, Chengdu, China.
  • 2 BGI-Shenzhen, Shenzhen 518083, China.
  • 3 National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China.
  • 4 BGI-Shenzhen, Shenzhen 518083, China; School of Bioscience and Bioengineering, South China University of Technology, Guangzhou, China.
  • 5 Xiangxi Maternal and Child Health Hospital, Jishou, China.
  • 6 Department of Pediatric, West China Second University Hospital, Sichuan University, Chengdu, China.
  • 7 National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China; Laboratory of Molecular Epidemiology for Birth Defect, West China Institute of Women and Children's Health, Sichuan University, Chengdu, China. Electronic address: zhujun028@163.com.

摘要


Leber congenital amaurosis is the earliest onset and most severe inherited retinal dystrophy. Mutations in 21 genes have been identified to be responsible for LCA. To detect the causative variants, we performed targeted next generation sequencing in two affected siblings of a consanguineous Chinese family with suspected LCA. A novel homozygous missense mutation (c.721C>T, p. Pro241Ser) of NMNAT1 has been identified. The mutation was inherited from their consanguineous parents who were heterozygous and was absent in 300 unrelated healthy individuals. NMNAT1, which encodes the nicotinamide mononucleotide adenylyltransferase 1, has been recently identified to be one of the LCA-causing genes. Our results expanded the spectrum of mutations in NMNAT1. In this study, targeted next generation sequencing provides an accurate and efficient method for identifying mutations in hereditary diseases with highly genetic and clinical heterogeneity.

KEYWORDS: LCA, Nicotinamide nucleotide adenylyltransferase 1 gene, Variant

基因