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Genet Test Mol Biomarkers. 2018 Mar;22(3):165-169. doi: 10.1089/gtmb.2017.0248. Epub 2018 Feb 13.

Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa.

Yang M1,2,3, Li S1,2,3, Liu W3, Yang Y3, Zhang L3, Zhang S3, Jiang Z3,4,5, Yang Z1,2,3,5, Zhu X1,2,3,4,5.

Author information

1
1 Chengdu Institute of Biology , Chinese Academy of Sciences, Chengdu, China .
2
2 University of Chinese Academy of Sciences , Beijing, China .
3
3 Key Laboratory for Human Disease Gene Study and Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China , Chengdu, China .
4
4 Institute of Laboratory Animal Sciences , Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China .
5
5 Center for Informatics Medicine, University of Electronic Science and Technology of China , Chengdu, China .

Abstract

BACKGROUND:

Retinitis pigmentosa (RP) is a group of inherited retinal diseases that result in severe progressive visual impairment.

AIMS:

The purpose of this article was to apply targeted next-generation sequencing (NGS) to identify the causative mutation in a Chinese RP family.

METHODS:

Blood samples were collected from a Chinese proband diagnosed with RP and her family members. A total of 163 genes that have been previously found to be involved in inherited retinal diseases were selected for NGS. Rigorous NGS data analysis; Sanger sequencing validation; and segregation analysis were applied to evaluate a novel frameshift mutation.

RESULTS:

Sequence analysis revealed that the proband and her affected sister both carried a novel homozygous frameshift mutation in MERTK (p.I103Nfs*4). Other family members carrying a heterozygous mutation were unaffected. This mutation was found to cosegregate with the disease phenotype in this family. This mutation was not found in 1,000 control individuals.

CONCLUSIONS:

The targeted NGS strategy employed provides an efficient tool for RP pathogenic gene detection. This study identified a new autosomal recessive mutation in the RP-related gene MERTK, which expands the spectrum of RP disease-causing mutations.

KEYWORDS:

MERTK; autosomal recessive retinitis pigmentosa; genetics; next-generation sequencing

PMID:
29437494
DOI:
10.1089/gtmb.2017.0248
[Indexed for MEDLINE]

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