Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata

Prenatal Diagnosis

Volumn 28, Issue 5, 2008, Pages 384-388

  Tysoe, Carolyn ^a   Law, Caroline J ^b   Caswell, Richard ^c   Clayton, Peter ^d   Ellard, Sian ^a,e  

^a ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

^c CARDIFF UNIVERSITY   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e PENINSULA MEDICAL SCHOOL   (United Kingdom)

Author keywords

Cholesterol biosynthesis; Chondrodysplasia punctata; Emopamil binding protein; Novel missense mutation; Prenatal diagnosis

Indexed keywords

BINDING PROTEIN; EMOPAMIL; GENOMIC DNA; MICROSATELLITE DNA;

ADULT; ARTICLE; CHEEK; CHOLESTEROL SYNTHESIS; CHONDRODYSPLASIA PUNCTATA; COMPUTER MODEL; DNA EXTRACTION; DNA FLANKING REGION; DNA SEQUENCE; EXON; FEMALE; GENE MAPPING; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; ICHTHYOSIS; LEUKOCYTE; MASS FRAGMENTOGRAPHY; MICROSATELLITE MARKER; MISSENSE MUTATION; NAIL DISEASE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN STRUCTURE; SCALP HAIR; SCOLIOSIS; XERODERMA PIGMENTOSUM;

CHONDRODYSPLASIA PUNCTATA; FEMALE; GENETIC COUNSELING; HUMANS; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PRENATAL DIAGNOSIS; STEROID ISOMERASES;

EID: 45249088576     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1980     Document Type: Article

References (13)

1. Aughton DJ, Kelley RI, Metzenberg A, Pureza V, Pauli RM. 2003. X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene raosaicism in a male. Am J Med Genet A 116: 255-260.
2. Braverman N, Lin P, Moebius FF, et al. 1999. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat Genet 22: 291-294.
3. Clayton PT, Bowron A, Mills KA, Massoud A, Casteels M, Milla PJ. 1993. Phytosterolemia in children with parenteral nutrition-associated cholestatic liver disease. Gastroenterology 105: 1806-1813.
4. Derry JM, Gormally E, Means GD, et al. 1999. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet 22: 286-290.
5. Dussossoy D, Carayon P, Belugou S, et al. 1999. Colocalization of sterol isomerase and sigma(1) receptor at endoplasmic reticulum and nuclear envelope level. Eur J Biochem 263: 377-386.
6. Happle R. 1979. X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. Hum Genet 53: 65-73.
7. Harries LW, Wickham CL, Evans JC, Rule SA, Joyner MV, Ellard S. 2005. Analysis of haematopoietic chimaerism by quantitative realtime polymerase chain reaction. Bone Marrow Transplant 35: 283-290.
8. Metzenberg AB, Kelley R, Smith D, et al. 1999. Mutations in chondrodysplasia punctata, X-linked dominant type (CDPX2) [abstract]. Am J Hum Genet 65: A480.
9. Milunsky JM, Maher TA, Metzenberg AB. 2003. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. Am J Med Genet A 116: 249-254.
10. Moebius FF, Soellner KE, Fiechtner B, Huck CW, Bonn G, Gloss-mann H. 1999. Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization. Biochemistry 38: 1119-1127.
11. Rice P, Longden I, Bleasby A. 2000. EMBOSS: the European molecular biology open software suite. Trends Genet 16: 276-277.
12. Rost B, Yachdav G, Liu J. 2004. The PredictProtein server. Nucleic Acids Res 32: W321-W326.
13. Whittock NV, Izatt L, Simpson-Dent SL, Becker K, Wakelin SH. 2003. Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata. Prenat Diagn 23: 701-704.