{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["16(4)"],"submitter":["Zhang HY"],"pubmed_abstract":["<h4>Aim</h4>To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome [LADD (MIM 149730)] showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundation for future research on the pathogenic gene.<h4>Methods</h4>Ophthalmological examinations, including slit-lamp biomicroscopy and lacrimal duct probing, and computed tomography dacryocystography (CT-DCG) were performed for all participants. The family pedigree was drawn, genetic features were analyzed, and the genomic DNA of the subjects was extracted. Pathogenic genes were screened <i>via</i> whole exome sequencing (WES) and confirmed using Sanger sequencing.<h4>Results</h4>Six patients belonged to this three-generation family, and their clinical manifestations inc"],"journal":["International journal of ophthalmology"],"pagination":["499-504"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10089906"],"repository":["biostudies-literature"],"pubmed_title":["Identification of a novel mutation in the <i>FGF10</i> gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome."],"pmcid":["PMC10089906"],"pubmed_authors":["Zhang HY","Wang P","Tian YP","Zhang MJ","Tao H","Wang LH","Wang F","Zhou XB","Cui JY","Zhang CY","Bai F"],"additional_accession":[]},"is_claimable":false,"name":"Identification of a novel mutation in the <i>FGF10</i> gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome.","description":"<h4>Aim</h4>To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome [LADD (MIM 149730)] showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundation for future research on the pathogenic gene.<h4>Methods</h4>Ophthalmological examinations, including slit-lamp biomicroscopy and lacrimal duct probing, and computed tomography dacryocystography (CT-DCG) were performed for all participants. The family pedigree was drawn, genetic features were analyzed, and the genomic DNA of the subjects was extracted. Pathogenic genes were screened <i>via</i> whole exome sequencing (WES) and confirmed using Sanger sequencing.<h4>Results</h4>Six patients belonged to this three-generation family, and their clinical manifestations inc","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2025-04-18T20:53:33.252Z","creation":"2024-11-20T08:02:28.811Z"},"accession":"S-EPMC10089906","cross_references":{"pubmed":["37077496"],"doi":["10.18240/ijo.2023.04.02"]}}