Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2) [3]

Journal of Investigative Dermatology

Volumn 121, Issue 4, 2003, Pages 939-942

  Whittock, Neil V ^a,b   Izatt, Louise ^c,i   Mann, Anuska ^d   Homfray, Tessa ^e   Bennett, Christopher ^f   Mansour, Sahar ^e   Hurst, Jane ^g   Fryer, Alan ^h   Saggar, Anand K ^e   Barwell, Julian G ⁱ   Ellard, Sian ^b   Clayton, Peter T ^d  

^a ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^b PENINSULA MEDICAL SCHOOL   (United Kingdom)

^c EALING HOSPITAL NHS TRUST   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^f ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^g CHURCHILL HOSPITAL   (United Kingdom)

^h Countess of Chester Hospital ^*  (United Kingdom)

ⁱ GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL DERIVATIVE; EMOPAMIL BINDING PROTEIN; GENE PRODUCT; UNCLASSIFIED DRUG;

ADULT; CHOLESTEROL BLOOD LEVEL; CHONDRODYSPLASIA PUNCTATA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; EXON; GAS CHROMATOGRAPHY; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; GENETIC DISORDER; HUMAN; LETTER; MASS SPECTROMETRY; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SYMPTOM;

EID: 0141921982     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2003.12489.x     Document Type: Letter

References (22)

1. Becker K, Csikos M, Horvath A, Karpati S: Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hunermann-Happle syndrome. Exp Dermatol 10:286-289, 2001
2. Braverman N, Lin P, Moebius FF, et al: 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, 1999
3. Clayton PT, Bowron A, Mills KA, Massoud A, Casteels M, Milla PJ: Phytosterolemia in children with parenteral nutrition-associated cholestatic liver disease. Gastroenterology 105:1806-1813, 1993
4. Derry JM, Gormally E, Means GD, et al: Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet 22:286-290, 1999
5. Diaz A, Girós M, Clusellas N, et al: Emopamil binding protein gene mutation in a male with severe neurological involvement [Abstract]. J Inker Metab Dis 25 (Suppl 1):163, 2002
6. FitzPatrick DR, Keeling JW, Evans MJ, et al: Clinical phenotype of desmosterolosis. Am J Med Genet 75:145-152, 1998
7. Grange DK, Kratz LE, Braverman NE, Kelley RI: CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. Am J Med Genet 90:328-335, 2000
8. Hanner M, Moebius FF, Weber F, Grabner M, Striessnig J, Glossmann H: Phenylalkylamine Ca2+ antagonist binding protein: Molecular cloning, tissue distribution, and heterologous expression. J Biol Chem 270:7551-7557, 1995
9. Happle R: X-linked dominant chondrodysplasia punctata: Review of literature and report of a case. Hum Genet 53:65-73, 1979
10. Has C, Bruckner-Tuderman L, Muller D, Floeth M, Folkers E, Donnai D, Traupe H: The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: Novel mutations, and somatic and gonadal mosaicism. Hum Mol Genet 9:1951-1955, 2000
11. Has C, Seedorf U, Kannenberg F, et al: Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hunermann-Happle syndrome. J Invest Dermatol 118:851-858, 2002
12. Herman GE, Kelley RI, Pureza V, et al: Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). Genet Med 4:434-438, 2002
13. Ikegawa S, Ohashi H, Ogata T, et al: Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. Am J Med Genet 94:300-305, 2000
14. Kelley RI, Wilcox WG, Smith M, Kratz LE, Moser A, Rimoin DS: Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. Am J Med Genet 83:213-219, 1999
15. Milunsky JM, Maher TA, Metzenberg AB, Kelley RI: Molecular, biochemical, and phenotypic analysis of a male with X-linked dominant Conradi-Hunermann-Happle syndrome (CDPX2). Am J Hum Genet 69:A494, 2001
16. Offiah AC, Mansour S, Jeffery I, et al: Greenberg dysplasia (HEM) and X-linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): Presentation of two conditions with abnormal sterol metabolism and overlapping phenotype. J Med Genet in press 2003
17. Schindelhauer D, Hellebrand H, Grimm L, et al: Long-range map of a 3. 5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval. Genome Res 6:1056-1069, 1996
18. Silve S, Dupuy PH, Labit-Lebouteiller C, et al: Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta8-delta7 sterol isomerase activity in yeast. J Biol Chem 271:22434-22440, 1996
19. Sutphen R, Amar MJ, Kousseff BG, Toomey KE: XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome). Am J Med Genet 57: 489-492, 1995
20. Traupe H, Muller D, Atherton D, Kalter DC, Cremers FP, van Oost BA, Ropers HH: Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: Possible involvement of an unstable pre-mutation. Hum Genet 89:659-665, 1992
21. Whittock NV, Izatt L, Simpson-Dent SL, Becker K, Wakelin SH: Molecular prenatal diagnosis in a case of X-linked dominant chondrodysplasia punctata. Prenat Diagn in press, 2003
22. Woollett LA: Fetal lipid metabolism. Front Biosci 6:D536-D545, 2001