biostudies-literatureSerpen JYNEI NIH HHSNIGMS NIH HHS1034https://www.ebi.ac.uk/biostudies/studies/S-EPMC10218699biostudies-literatureUnknown14(5)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 intervalGenesA Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification.PMC10218699T32GM007544K08EY032098Johnson KPrasov LBeil ASerpen JYPresley WArmenti STMian SIInnis JWfalseA Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification.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 interval2023-01-01T00:00:00Z2023 May2025-04-05T14:15:14.879Z2025-04-05T14:15:14.879ZS-EPMC102186993723939410.3390/genes14051034