July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Targeted Next Generation Sequencing Reveals a Novel Frameshift MERTK Mutation in Retinitis Pigmentosa
Author Affiliations & Notes
  • Mu Yang
    Chengdu Institute of Biology, University of Chinese Academy of Sciences, Chengdu, Si Chuan, China
    Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, Chengdu, China
  • Shujin Li
    Chengdu Institute of Biology, University of Chinese Academy of Sciences, Chengdu, Si Chuan, China
    Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, Chengdu, China
  • Xianjun Zhu
    Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, Chengdu, China
  • Zhenglin Yang
    Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, Chengdu, China
    Chengdu Institute of Biology, University of Chinese Academy of Sciences, Chengdu, Si Chuan, China
  • Footnotes
    Commercial Relationships   Mu Yang, None; Shujin Li, None; Xianjun Zhu, None; Zhenglin Yang, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 36. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Mu Yang, Shujin Li, Xianjun Zhu, Zhenglin Yang; Targeted Next Generation Sequencing Reveals a Novel Frameshift MERTK Mutation in Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2018;59(9):36.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose : Retinitis pigmentosa (RP) is a group of inherited retinal diseases that causes severe progressive visual impairment. The purpose of this paper was to apply targeted next-generation sequencing (NGS) to identify causative mutations of RP in a Chinese RP family.

Methods : Blood samples were collected from a 30-year-old female Chinese proband diagnosed with RP and her family members. A total of 163 genes that have been 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 identified pathogenic mutations.

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. In addition, this mutation was not found in 1,000 control samples.

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

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

 

Fundus examination of the proband showing moderate bone-like pigmentation, constricted retinal vessels and pallor of the optic disc in both eyes. (a) Patient’s left eye. (b) Patient’s right eye.

Fundus examination of the proband showing moderate bone-like pigmentation, constricted retinal vessels and pallor of the optic disc in both eyes. (a) Patient’s left eye. (b) Patient’s right eye.

 

Pedigree and DNA sequence chromatogram of the family. (a) The pedigree of this family. The proband is marked by an arrow. Shaded symbols indicate clinically manifested RP. The homozygous and heterozygous mutations are shown as M/M and M/+, respectively. (b,c) Sequence analysis of the MERTK gene in the proband (04) and her affected sister (05) reveals a novel RP mutation, c.304_305delCA, resulting in a subsequent frameshift reading frame and truncated protein. (d-f) Sequence analysis of the MERTK gene in three unaffected family members (01, 02 and 03) reveals the heterozygous mutation was non-pathogenic. Arrows indicated the start position of altered nucleotides.

Pedigree and DNA sequence chromatogram of the family. (a) The pedigree of this family. The proband is marked by an arrow. Shaded symbols indicate clinically manifested RP. The homozygous and heterozygous mutations are shown as M/M and M/+, respectively. (b,c) Sequence analysis of the MERTK gene in the proband (04) and her affected sister (05) reveals a novel RP mutation, c.304_305delCA, resulting in a subsequent frameshift reading frame and truncated protein. (d-f) Sequence analysis of the MERTK gene in three unaffected family members (01, 02 and 03) reveals the heterozygous mutation was non-pathogenic. Arrows indicated the start position of altered nucleotides.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×