Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata

• Published in: Prenatal diagnosis Vol. 23; no. 9; pp. 701 - 704
• Main Authors: Whittock, N. V., Izatt, L., Simpson-Dent, S. L., Becker, K., Wakelin, S. H.
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.09.2003; Wiley
• Subjects: Adult; Biological and medical sciences; Biomarkers; Cholesterol - metabolism; Chondrodysplasia Punctata - blood; Chondrodysplasia Punctata - genetics; Chromosomes, Human, X - genetics; Conradi-Hünermann-Happle; Diagnosis, Differential; DNA Primers; Female; Genetic Testing; Gynecology. Andrology. Obstetrics; Humans; Lipid Metabolism, Inborn Errors - blood; Lipid Metabolism, Inborn Errors - genetics; Management. Prenatal diagnosis; Medical sciences; Mutation; mutation detection; Pedigree; Polymerase Chain Reaction; Pregnancy; Pregnancy. Fetus. Placenta; Prenatal Diagnosis; skeletal dysplasia; Human; Chondrodysplasia punctata; cholesterol metabolism; Diseases of the osteoarticular system; Metabolic diseases; Enzymopathy; skeletal dysplasia; Genetic disease; Case study; Prenatal; Conradi-Hünermann-Happle; Mother; mutation detection; Peroxisomal disorders; Fetus; Dominant character; Diagnosis; Molecular biology; Osteochondrodysplasia
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.667

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. Copyright © 2003 John Wiley & Sons, Ltd.