Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population

	Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population
	Zhou, Yu; Saikia, Bibhuti B.; Jiang, Zhilin; Zhu, Xiong; Liu, Yuqing; Huang, Lulin; Kim, Ramasamy; Yang, Yin; Qu, Chao; Hao, Fang
刊名	JOURNAL OF HUMAN GENETICS
	2015
卷号	60 期号:10 页码:625-630
关键词	CILIARY PROTEIN
通讯作者	Sundaresan, P (reprint author), Aravind Eye Hosp, Aravind Med Res Fdn, Dept Genet, Madurai, Tamil Nadu, India.
产权排序	3
合作状况	国际
英文摘要	Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 50 genes. To identify genetic mutations underlying autosomal recessive RP (arRP), we performed whole-exome sequencing study on two consanguineous marriage Indian families (RP-252 and RP-182) and 100 sporadic RP patients. Here we reported novel mutation in FAM161A in RP-252 and RP-182 with two patients affected with RP in each family. The FAM161A gene was identified as the causative gene for RP28, an autosomal recessive form of RP. By whole-exome sequencing we identified several homozygous genomic regions, one of which included the recently identified FAM161A gene mutated in RP28-linked arRP. Sequencing analysis revealed the presence of a novel homozygous frameshift mutation p.R592FsX2 in both patients of family RP-252 and family RP-182. In 100 sporadic Indian RP patients, this novel homozygous frameshift mutation p.R592FsX2 was identified in one sporadic patient ARRP-S-I-46 by whole-exome sequencing and validated by Sanger sequencing. Meanwhile, this homozygous frameshift mutation was absent in 1000 ethnicity-matched control samples screened by direct Sanger sequencing. In conclusion, we identified a novel homozygous frameshift mutations of RP28-linked RP gene FAM161A in Indian population.
学科主题	Genetics & Heredity
类目[WOS]	Genetics & Heredity
语种	英语
内容类型	期刊论文
源URL	[http://210.75.237.14/handle/351003/27567]
专题	成都生物研究所_天然产物研究
推荐引用方式 GB/T 7714	Zhou, Yu,Saikia, Bibhuti B.,Jiang, Zhilin,et al. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population[J]. JOURNAL OF HUMAN GENETICS,2015,60(10):625-630.
APA	Zhou, Yu.,Saikia, Bibhuti B..,Jiang, Zhilin.,Zhu, Xiong.,Liu, Yuqing.,...&Zhu, Xianjun.(2015).Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.JOURNAL OF HUMAN GENETICS,60(10),625-630.
MLA	Zhou, Yu,et al."Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population".JOURNAL OF HUMAN GENETICS 60.10(2015):625-630.