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. 2020 Feb 10;21(1):27.
doi: 10.1186/s12881-020-0963-z.

Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review

Dan-Dan Wang  1   2   3 , Feng-Juan Gao  1   2   3 , Fang-Yuan Hu  1   2   3 , Sheng-Hai Zhang  1   2   3 , Ping Xu  1   2   3 , Ji-Hong Wu  4   5   6
Affiliations

Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review

Dan-Dan Wang et al. BMC Med Genet. .

Abstract

Background: Stickler syndrome is the most common genetic cause of rhegmatogenous retinal detachment (RRD) in children, and has a high risk of blindness. Type I (STL1) is the most common subtype, caused by COL2A1 mutations. This study aims to analyze the mutation spectrum of COL2A1 and further elucidate the genotype-phenotype relationships in the East Asian populations with STL1, which is poorly studied at present.

Methods: By searching MEDLINE, Web of Science, CNKI, Wanfang Data, HGMD and Clinvar, all publications associated with STL1 were collected. Then, they were carefully screened to obtain all reported STL1-related variants in COL2A1 and clinical features in East Asian patients with STL1.

Results: There were 274 COL2A1 variants identified in 999 patients with STL1 from 466 unrelated families, and more than half of them were truncation mutations. Of the 107 STL1 patients reported in the East Asian population, it was found that patients with truncation mutations had milder systemic phenotypes, whereas patients with splicing mutations had severer phenotypes. In addition, several recurrent variants (c.3106C > T, c.1833 + 1G > A, c.2710C > T and c.1693C > T) were found.

Conclusions: Genotype-phenotype correlations should certainly be studied carefully, contributed to making personalized follow-up plans and predicting prognosis of this disorder. Genome editing holds great potential for treating inherited diseases caused by pathogenic mutations. In this study, several recurrent variants were found, providing potential candidate targets for genetic manipulation in the future.

Keywords: COL2A1; Gene therapy; Genotype-phenotype correlation; Retinal detachment; Stickler syndrome.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Population distribution of STL1-related COL2A1 mutation reports. The pie-chart shows the number and percentage of STL1 patients harboring COL2A1 variants from different ethnicities
Fig. 2
Fig. 2
The distribution of variants in the COL2A1 gene. a The distribution of mutation types. b The distribution of variants in different exon/introns
Fig. 3
Fig. 3
The clinical characteristics of 107 patients with STL1 in East Asia. a The prevalence of different phenotypes in STL1. b The prevalence of different phenotypes among 3 subgroups. eoHM: early-onset high myopia; RD: retinal detachment; MVA: membrane vitreous abnormalities; HL: hearing loss
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