Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population

Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journalpeer-review

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Author(s)

  • Feng-Juan Gao
  • Dan-Dan Wang
  • Fang-Yuan Hu
  • Ping Xu
  • Fang Chen
  • Yu-He Qi
  • Wei Liu
  • Wei Li
  • Sheng-Hai Zhang
  • Qing Chang
  • Ge-Zhi Xu
  • Ji-Hong Wu

Related Research Unit(s)

Detail(s)

Original languageEnglish
Article number174
Journal / PublicationOrphanet Journal of Rare Diseases
Volume16
Online published13 Apr 2021
Publication statusPublished - 2021

Link(s)

Abstract

Background: The retinoid isomerohydrolase RPE65 has received considerable attention worldwide since a successful clinical gene therapy was approved in 2017 as the first treatment for vision loss associated with RPE65-mediated inherited retinal disease. Identifying patients with RPE65 mutations is a prerequisite to assessing the patients’ eligibility to receive RPE65-targeted gene therapies, and it is necessary to identify individuals who are most likely to benefit from gene therapies. This study aimed to investigate the RPE65 mutations frequency in the Chinese population and to determine the genetic and clinical characteristics of these patients. 
Results: Only 20 patients with RPE65 mutations were identified, and RPE65 mutations were determined to be the 14th most common among all patients with genetic diagnoses. Ten novel variants and two hotspots associated with FAP were identified. A literature review revealed that a total of 57 patients of Chinese origin were identified with pathogenic mutations in the RPE65 gene. The mean best Snellen corrected visual acuity was worse (mean 1.3 ± 1.3 LogMAR) in patients older than 20 years old than in those younger than 15 years old (0.68 ± 0.92 LogMAR). Bone spicule-like pigment deposits (BSLPs) were observed in six patients; they were older than those without BSLP and those with white-yellow dots. Genotype–phenotype analysis revealed that truncating variants seem to lead to a more severe clinical presentation, while best corrected visual acuity testing and fundus changes did not correlate with specific RPE65 variants or mutation types. 
Conclusions: This study provides a detailed clinical-genetic assessment of patients with RPE65 mutations of Chinese origin. These results may help to elucidate RPE65 mutations in the Chinese population and may facilitate genetic counseling and the implementation of gene therapy in China.

Research Area(s)

  • Chinese population, Genotype–phenotype correlations, Inherited retinal dystrophy, Next-generation sequencing, RPE65 gene mutations

Citation Format(s)

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population. / Gao, Feng-Juan; Wang, Dan-Dan; Li, Jian-Kang; Hu, Fang-Yuan; Xu, Ping; Chen, Fang; Qi, Yu-He; Liu, Wei; Li, Wei; Zhang, Sheng-Hai; Chang, Qing; Xu, Ge-Zhi; Wu, Ji-Hong.

In: Orphanet Journal of Rare Diseases, Vol. 16, 174, 2021.

Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journalpeer-review

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