Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Oct;259(10):2929-2939.
doi: 10.1007/s00417-021-05196-y. Epub 2021 Apr 27.

Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort

Wenmin Sun  1 , Xueshan Xiao  1 , Shiqiang Li  1 , Xiaoyun Jia  1 , Panfeng Wang  1 , Qingjiong Zhang  2
Affiliations

Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort

Wenmin Sun et al. Graefes Arch Clin Exp Ophthalmol. 2021 Oct.

Abstract

Purpose: The pathogenic variants in TSPAN12 could lead to familial exudative vitreoretinopathy (FEVR), which has high clinical variability. This study aims to assess the pathogenicity of TSPAN12 variants and their phenotypic spectrum based on exome sequencing from 7092 probands with different eye conditions.

Methods: The variants in TSPAN12 were selected from exome sequencing data of samples from 7092 probands with different forms of eye conditions. Potentially pathogenic variants were evaluated through the annotation of types, locations, population frequencies, and in silico predictions of variants from in-house data, gnomAD, and published literature. The clinical features of patients with potentially pathogenic variants in TSPAN12 were assessed.

Results: A total of 45 variants in TSPAN12 with coding effects were detected based on the exome data from 7092 probands, among which 31 were classified as pathogenic variants including 15 novels. The 31 variants were identified in 34 probands with various initial diagnoses, including FEVR in 21 probands and diseases other than FEVR in the remaining 13 probands. Biallelic pathogenic variants were identified in one proband with initial diagnosis of high myopia.

Conclusion: Truncating variants and the missense variants that are predicted as deleterious are likely pathogenic variants of TSPAN12. Approximately 61.8% of patients with pathogenic variants in this gene had an initial diagnosis of FEVR, and the remaining 38.2% of patients had various initial diagnoses. These findings expand the understanding about variant evaluation of TSPAN12 and phenotypic spectrum of TSPAN12-associated FEVR.

Keywords: Familial exudative vitreoretinopathy; Phenotypes; TSPAN12; Variants.

PubMed Disclaimer

References

    1. Ranchod TM, Ho LY, Drenser KA, Capone A Jr, Trese MT (2011) Clinical presentation of familial exudative vitreoretinopathy. Ophthalmology 118(10):2070–2075. https://doi.org/10.1016/j.ophtha.2011.06.020 - DOI - PubMed
    1. Wang S, Zhang X, Hu Y, Fei P, Xu Y, Peng J, Zhao P (2020) Clinical and genetical features of probands and affected family members with familial exudative vitreoretinopathy in a large Chinese cohort. Br J Ophthalmol. https://doi.org/10.1136/bjophthalmol-2019-315598
    1. Tang H, Li N, Li Z, Zhang M, Wei M, Huang C, Wang J, Li F, Wang H, Liu Z, He L, Cheng Y, Chen W, Jin L, Gong L, Lu J, Xue Y, Su M, Wang Y, Mo H, Chen Z, Guo W, Li Y, Pan H, Zhang W, Ma X, Jin X, Wang B, collaborating group of neonatal ocular birth d, genetic diseases in C (2018) Fundus examination of 199 851 newborns by digital imaging in China: a multicentre cross-sectional study. Br J Ophthalmol 102(12):1742–1746. https://doi.org/10.1136/bjophthalmol-2018-312366 - DOI - PubMed
    1. van Nouhuys CE (1991) Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. Am J Ophthalmol 111(1):34–41. https://doi.org/10.1016/s0002-9394(14)76893-x - DOI - PubMed
    1. Miyakubo H, Hashimoto K, Miyakubo S (1984) Retinal vascular pattern in familial exudative vitreoretinopathy. Ophthalmology 91(12):1524–1530. https://doi.org/10.1016/s0161-6420(84)34119-7 - DOI - PubMed

LinkOut - more resources