title: Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome.
abstract: Conradi-Hünermann-Happle syndrome, also known as X-linked dominant chondrodysplasia punctata (CDPX2), is characterized by skeletal abnormalities, cutaneous anomalies and cataracts. CDPX2 is caused by mutations in the emopamil-binding protein (EBP). We report two unrelated Thai female patients with clinically typical CDPX2, in which we discovered two novel and de novo frameshift mutations: 506-507delAG and 540-541delCC. This study demonstrates that EBP is the gene responsible for CDPX2 across different populations and extends the total number of confirmed mutations to 55.
authors.affiliation: Division of Medical Genetics and Metabolism, Department of Paediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. vorasuk.s@chula.ac.th
authors.forename: V
authors.initials: V
authors.lastname: Shotelersuk
authors.forename: S
authors.initials: S
authors.lastname: Tongkobpetch
mesh_terms: D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D013251:Steroid Isomerases / Q000235:genetics*; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D013251:Steroid Isomerases; C090445:EBP protein, human