biostudies-literatureUnknown16(4)Zhang HY<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 incInternational journal of ophthalmology499-504https://www.ebi.ac.uk/biostudies/studies/S-EPMC10089906biostudies-literatureIdentification 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.PMC10089906Zhang HYWang PTian YPZhang MJTao HWang LHWang FZhou XBCui JYZhang CYBai FfalseIdentification 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.<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 inc2023-01-01T00:00:00Z20232025-04-18T20:53:33.252Z2024-11-20T08:02:28.811ZS-EPMC100899063707749610.18240/ijo.2023.04.02