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Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.

Shun Gu1, Yuanyuan Tian1, Xue Chen1

  • 1Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, China.

Molecular Vision
|July 5, 2016
PubMed
Summary

Genetic analysis identified novel mutations in the eyes shut homolog (EYS) gene causing autosomal recessive retinitis pigmentosa (RP) in Chinese families. This study highlights the effectiveness of targeted next-generation sequencing for RP diagnosis and links EYS mutations to RP sino pigmento.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Autosomal recessive retinitis pigmentosa (RP) is a group of inherited retinal diseases leading to progressive vision loss.
  • Genetic defects are the primary cause of RP, but causative mutations remain unidentified in a significant proportion of patients.
  • Understanding the genetic basis of RP is crucial for diagnosis, genetic counseling, and potential therapeutic development.

Purpose of the Study:

  • To identify genetic lesions correlating with clinical phenotypes in four Chinese families affected by autosomal recessive retinitis pigmentosa (RP).
  • To investigate the role of the eyes shut homolog (EYS) gene in the pathogenesis of RP and RP sino pigmento (RPSP).

Main Methods:

  • Comprehensive ophthalmic evaluations and medical history reviews were conducted.
  • Targeted next-generation sequencing (NGS) of 205 retinal disease-related genes and 15 candidate genes was performed on probands.
  • In silico analyses, including predictive software and crystal structure modeling, were used to assess the pathogenicity of identified mutations.

Main Results:

  • Two families were diagnosed with RP sino pigmento (RPSP), characterized by an earlier onset and slower progression of RP.
  • Five mutations in the EYS gene, including two novel variants (c.7228+1G>A and c.9248G>A) and three recurrent mutations, were identified as causative for RP in the four families.
  • In silico analyses suggested that the identified EYS mutations could alter protein structure and function, potentially leading to RP.

Conclusions:

  • Targeted NGS is an efficient method for the genetic diagnosis of RP, enabling the identification of novel causative mutations.
  • This study establishes a correlation between EYS gene mutations and RP sino pigmento (RPSP).
  • The findings contribute to a better understanding of the genotypic-phenotypic relationships in EYS-associated RP.