Datasets-Based <i>IMPDH1</i> Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic-Reference-Cited by-同舟云学术

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Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic

Published:2024-04-11 Issue:8 Volume:49 Page:853-861
ISSN:0271-3683
Container-title:Current Eye Research
language:en
Short-container-title:Current Eye Research

Author:

Wang Junwen¹²,Wang Yingwei¹,Jiang Yi¹,Li Shiqiang¹,Jia Xiaoyun¹,Xiao Xueshan¹,Sun Wenmin¹,Wang Panfeng¹,Zhang Qingjiong¹

Affiliation:

1. State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guang-dong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, China

2. Department of Ophthalmology, The Central Hospital of Enshi Tujia and Miao Autonomous Prefecture, Enshi, Hubei, China

Funder

National Natural Science Foundation of China

Science and Technology Planning Projects of Guangzhou

Fundamental Research Funds of the State Key Laboratory of Ophthalmology

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/02713683.2024.2336158

Reference48 articles.

1. Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants

2. Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy

3. Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy

4. Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11

5. Spectrum-frequency and genotype–phenotype analysis of rhodopsin variants

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