{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(3)"],"submitter":["Wang X"],"pubmed_abstract":["<h4>Background</h4>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 (<i>LIM2</i>) gene expression is localized to tight junctional domains of different lens fiber membranes. To date, only four mutations in <i>LIM2</i> 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 <i>LIM2</i>.<h4>Methods</h4>A total of four Chinese families with CCs were recruited for this study, including three families inheriting in an autosomal dominant (AD) pat"],"journal":["Annals of translational medicine"],"pagination":["235"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7940952"],"repository":["biostudies-literature"],"pubmed_title":["Elongated axial length and myopia-related fundus changes associated with the Arg130Cys mutation in the <i>LIM2</i> gene in four Chinese families with congenital cataracts."],"pmcid":["PMC7940952"],"pubmed_authors":["Dongye M","Abudoukeremuahong A","Li J","Yang Y","Zhang X","Wang D","Qin Y","Lin H","Wang X","Lin Z","Ding L"],"additional_accession":[]},"is_claimable":false,"name":"Elongated axial length and myopia-related fundus changes associated with the Arg130Cys mutation in the <i>LIM2</i> gene in four Chinese families with congenital cataracts.","description":"<h4>Background</h4>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 (<i>LIM2</i>) gene expression is localized to tight junctional domains of different lens fiber membranes. To date, only four mutations in <i>LIM2</i> 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 <i>LIM2</i>.<h4>Methods</h4>A total of four Chinese families with CCs were recruited for this study, including three families inheriting in an autosomal dominant (AD) pat","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Feb","modification":"2026-05-07T22:16:46.927Z","creation":"2021-03-18T08:37:41Z"},"accession":"S-EPMC7940952","cross_references":{"pubmed":["33708862"],"doi":["10.21037/atm-20-4275"]}}