2. Academic Validation
  3. Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population

Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population

  • Genes (Basel). 2021 Apr 7;12(4):537. doi: 10.3390/genes12040537.
Lujia Zhang 1 2,  Ya Li 2,  Litao Qin 3,  Yu Wu 4,  Bo Lei 2
Affiliations

Affiliations

  • 1 Graduate School, Xinxiang Medical University, Xinxiang 453003, China.
  • 2 Henan Clinical Research Center for Ophthalmic Diseases, Henan Branch of National Clinical Research Center for Ocular Diseases, Henan Eye Institute, Henan Eye Hospital, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou 450003, China.
  • 3 Henan Medical Genetics Institute, Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China.
  • 4 Shanghai Flash Interpretation Biotechnology, Shanghai 201615, China.
PMID: 33917198 DOI: 10.3390/genes12040537
Abstract

Retinitis pigmentosa 77 is caused by mutations of REEP6 (MIM: 609346), which encodes a protein for the development of photoreceptors. Our study was to identify disease-causing variants in three Chinese families using targeted next-generation Sequencing (NGS). Multiple lines of computational predictions combined with in vitro cellular experiments were applied to evaluate the pathogenicity of the newly found variants. Three novel variants in REEP6, including one missense variant, c.268G>C, one frameshift variant, c.468delC, and one splicing variant, c.598+1G>C, were found, while c.268G>C was detected in all probands. The three variants were classified as likely pathogenic by the American College of Medical Genetics and Genomics (ACMG). REEP6 variant proteins c.268G>C and c.468delC in cultured cells destabilized the REEP6 protein and induced intracellular inclusions. Our data suggested that REEP6 c.268G>C may be a recurrent causative variant in Chinese autosomal recessive retinitis pigmentosa patients.

Keywords

REEP6; autosomal recessive retinitis pigmentosa; next generation sequencing; protein stability; variant.

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