Elongated axial length and myopia-related fundus changes associated with the Arg130Cys mutation in the LIM2 gene in four Chinese families with congenital cataracts

作者：Xun Wang, Yanli Qin, Aierxiding Abudoukeremuahong, Meimei Dongye, Xulin Zhang, Dongni Wang, Jing Li, Zhuoling Lin, Yahan Yang, Lin Ding, Haotian Lin · 发表于：Annals of Translational Medicine · 年份：2021 · DOI：10.21037/atm-20-4275 · 被引用次数：8 · 研究领域：Connexins and lens biology、Intraocular Surgery and Lenses、Anorectal Disease Treatments and Outcomes

Background: Congenital cataract (CC) is a congenital abnormality characterized by lens opacity present at birth and is associated with highly heterogeneous clinical manifestations. Lens-specific integral membrane protein (LIM2) gene expression is localized to tight junctional domains of different lens fiber membranes. To date, only four mutations in LIM2 have been reported to be associated with congenital or presenile cataracts. Due to the rarity of variants detected in the gene, there is limited progress in understanding the correlation between the genotype and phenotype of patients with mutations in LIM2. Methods: A total of four Chinese families with CCs were recruited for this study, including three families inheriting in an autosomal dominant (AD) pattern and one sporadic case. Genomic DNA was extracted from the leukocytes of peripheral blood collected from all available patients. Whole-exome sequencing (WES) was performed on all probands and at least one of their parents. Bioinformatics analysis was performed to evaluate the pathogenicity of the candidate variants. Exon 4 of LIM2 was amplified by polymerase chain reaction and directly sequenced. All patients underwent full ocular examinations. This was an observational study to explore the genotype-phenotype relationships in the four families with a common candidate variant. Results: Various ocular phenotypes were detected in these families, mainly including CCs, elongated axial length, and myopia-related fundus changes...