title: Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata.
abstract: X-linked dominant chondrodysplasia punctata, (CDPX2-MIM302960) also known as Conradi-Hünermann-Happle syndrome, is a rare form of skeletal dysplasia that affects the skeleton, skin, hair, and eyes. The disorder is caused by mutations within the emopamil binding protein (Ebp) that functions as a delta(8), delta(7) sterol isomerase in the cholesterol biosynthesis pathway. To date, over 40 separate mutations have been reported in the Ebp gene, EBP, with no obvious correlation between the molecular defects and the severity of the clinical phenotype. We have studied a 30-year-old woman who presented in adulthood with skin, hair, and mild skeletal defects but no ocular abnormalities and have identified a heterozygous missense mutation within the third transmembrane domain of the protein. In addition, we have performed molecular prenatal testing on her unborn fetus. The results demonstrate inter-familial variability for missense mutations within the emopamil binding protein and add to the molecular data for CDPX2.
authors.affiliation: Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK. nwhittoc@hgmp.mrc.ac.uk
authors.forename: N V
authors.initials: NV
authors.lastname: Whittock
authors.forename: L
authors.initials: L
authors.lastname: Izatt
authors.forename: S L
authors.initials: SL
authors.lastname: Simpson-Dent
authors.forename: K
authors.initials: K
authors.lastname: Becker
authors.forename: S H
authors.initials: SH
authors.lastname: Wakelin
mesh_terms: D000328:Adult; D015415:Biomarkers; D002784:Cholesterol / Q000378:metabolism; D002806:Chondrodysplasia Punctata / Q000097:blood / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D017931:DNA Primers; D003937:Diagnosis, Differential; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D015415:Biomarkers; D017931:DNA Primers; D002784:Cholesterol