{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Serpen JY"],"funding":["NEI NIH HHS","NIGMS NIH HHS"],"pagination":["1034"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10218699"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(5)"],"pubmed_abstract":["Progressive corneal opacification can result from multiple etiologies, including corneal dystrophies or systemic and genetic diseases. We describe a novel syndrome featuring progressive epithelial and anterior stromal opacification in a brother and sister and their mildly affected father, with all three family members having sensorineural hearing loss and two also with tracheomalacia/laryngomalacia. All carried a 1.2 Mb deletion at chromosome 13q12.11, with no other noteworthy co-segregating variants identified on clinical exome or chromosomal microarray. RNAseq analysis from an affected corneal epithelial sample from the proband's brother revealed downregulation of <i>XPO4</i>, <i>IFT88</i>, <i>ZDHHC20</i>, <i>LATS2</i>, <i>SAP18</i>, and <i>EEF1AKMT1</i> within the microdeletion interval"],"journal":["Genes"],"pubmed_title":["A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification."],"pmcid":["PMC10218699"],"funding_grant_id":["T32GM007544","K08EY032098"],"pubmed_authors":["Johnson K","Prasov L","Beil A","Serpen JY","Presley W","Armenti ST","Mian SI","Innis JW"],"additional_accession":[]},"is_claimable":false,"name":"A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification.","description":"Progressive corneal opacification can result from multiple etiologies, including corneal dystrophies or systemic and genetic diseases. We describe a novel syndrome featuring progressive epithelial and anterior stromal opacification in a brother and sister and their mildly affected father, with all three family members having sensorineural hearing loss and two also with tracheomalacia/laryngomalacia. All carried a 1.2 Mb deletion at chromosome 13q12.11, with no other noteworthy co-segregating variants identified on clinical exome or chromosomal microarray. RNAseq analysis from an affected corneal epithelial sample from the proband's brother revealed downregulation of <i>XPO4</i>, <i>IFT88</i>, <i>ZDHHC20</i>, <i>LATS2</i>, <i>SAP18</i>, and <i>EEF1AKMT1</i> within the microdeletion interval","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 May","modification":"2025-04-05T14:15:14.879Z","creation":"2025-04-05T14:15:14.879Z"},"accession":"S-EPMC10218699","cross_references":{"pubmed":["37239394"],"doi":["10.3390/genes14051034"]}}