Novel gene mutations in Chinese patients with isolated ectopia lentis.

Br J Ophthalmol

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, China

Published: June 2023

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Article Abstract

Background: To characterise the phenotype and genetic defects of isolated ectopia lentis (IEL) and to determine the gene mutation frequencies in a Chinese congenital ectopia lentis (CEL) cohort.

Methods: In total, 127 Chinese probands with a clinical CEL diagnosis were recruited for this study and underwent ocular and systemic examinations. Whole-exome sequencing was used to detect variants, and Sanger sequencing and bioinformatics analysis verified the pathogenic mutations.

Results: Overall, biallelic mutations in involving 8 novel mutations (c.21-2A>G, c.1174G>C, c.2169C>A, c.2236C>T, c.2263delG, c.2397C>A, c.2488dupC and c.2935T>C) were identified in 5 probands (5/127, 3.94%) with IEL. Additionally, four patients had combined congenital cataracts, and two patients had ectopia lentis et pupillae (ELP). One of eight mutations was a homozygous missense mutation, and the other seven mutations were compound heterozygous. These eight consisted of three missense (37.5%), three frameshift (37.5%), one stop-gain (12.5%) and one spicing mutation (12.5%). These mutations co-segregated with the IEL, and the substitution of amino acids greatly affected conserved residues. Most of the novel mutations were located in the thrombospondin type 1 (TSP1) domain, which ultimately alters the structure of the ADAMTSL4 protein.

Conclusions: This study reported five IEL probands with eight novel mutations in the gene. The clinical IEL phenotypes caused by these mutations were variable and complex. This study thus establishes the gene mutation frequency and expands the gene's mutation spectrum to help recognise -related IEL clinical manifestations.

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Source
http://dx.doi.org/10.1136/bjophthalmol-2021-320475DOI Listing

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