Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: New insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature

British Journal of Dermatology

Volumn 166, Issue 4, 2012, Pages 830-838

  Canueto J ^a,b,n   Giros M ^c   Ciria, S ^a   Pi Castan G ^d   Artigas, M ^e   Garcia Dorado J ^b   Garcia Patos V ^f   Viros A ^f   Vendrell, T ^f   Torrelo, A ^g   Hernandez Martin A ^g   Martin Hernandez E ^h   Garcia Silva, M T ^h   Fernandez Burriel M ⁱ   Rosell, J ^j   Tejedor, M ^k   Martinez F ^l   Valero, J ^m   Garcia J L ^m   Sanchez Tapia E M ^m   Unamuno, P ^b   Gonzalez Sarmiento R ^a,m   more..

^a UNIVERSITY OF VALENCIA   (Spain)

^b HOSPITAL UNIVERSITARIO DE SALAMANCA   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

^d HOSPITAL DE LA RIBERA   (Spain)

^e Universidad Pública de Navarra   (Spain)

^f HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^g HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^h HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

ⁱ Servicio de Análisis Clínicos Hospital de Merida   (Spain)

^j Genetic Service   (Spain)

^k Hospital Son Espasses   (Spain)

^l HOSPITAL UNIVERSITARIO LA FE   (Spain)

^m UNIVERSITY OF SALAMANCA   (Spain)

ⁿ HOSPITAL NUESTRA SEÑORA DE SONSOLES   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; EMOPAMIL BINDING PROTEIN; UNCLASSIFIED DRUG;

ADULT; CALCIFYING CHONDRODYSTROPHY; CATARACT; CHILD; CHONDRODYSPLASIA PUNCTATA; CLINICAL ARTICLE; CONRADI HUNERMANN HAPPLE SYNDROME; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; ICHTHYOSIS; INHERITANCE; MASS FRAGMENTOGRAPHY; MICROPHTHALMIA; MOLECULAR BIOLOGY; NEWBORN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN METHYLATION; REVIEW; SCHOOL CHILD; SPAIN; X CHROMOSOME INACTIVATION;

ADULT; CHOLESTADIENOLS; CHOLESTEROL; CHONDRODYSPLASIA PUNCTATA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC DISEASES, X-LINKED; GENOTYPE; HUMANS; INFANT; MUTATION; PHENOTYPE; SPAIN; STEROID ISOMERASES; X CHROMOSOME INACTIVATION;

EID: 84863394343     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2011.10756.x     Document Type: Review

References (22)

1. Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009. J Am Acad Dermatol 2010; 63: 607-41.
2. Happle R,. X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. Hum Genet 1979; 53: 65-73.
3. Herman GE,. X-Linked dominant disorders of cholesterol biosynthesis in man and mouse. Biochim Biophys Acta 2000; 1529: 357-73.
4. Happle R, Kuchle HJ,. Sectorial cataract: a possible example of lyonisation. Lancet 1983; 2: 919-20.
5. Aughton DJ, Kelley RI, Metzenberg A, et al. X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. Am J Med Genet A 2003; 116A: 255-60.
6. Kelley RI, Wilcox WG, Smith M, et al. Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. Am J Med Genet 1999; 83: 213-19.
7. Herman GE, Kelley RI, Pureza V, et al. Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). Genet Med 2002; 4: 434-8.
8. 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 1999; 22: 286-90.
9. 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-Hünermann syndrome. Nat Genet 1999; 22: 291-4.
10. Chomczynski P, Sacchi N,. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987; 162: 156-9.
11. Allen RC, Zoghbi HY, Moseley AB, et al. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992; 51: 1229-39.
12. Ikegawa S, Ohashi H, Ogata T, et al. Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. Am J Med Genet 2000; 94: 300-5.
13. Has C, Bruckner-Tuderman L, Muller D, et al. The Conradi-Hünermann- Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. Hum Mol Genet 2000; 9: 1951-5.
14. Has C, Seedorf U, Kannenberg F, et al. Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome. J Invest Dermatol 2002; 118: 851-8.
15. Bruch D, Megahed M, Majewski F, et al. Ichthyotic and psoriasiform skin lesions along Blaschko's lines in a woman with X-linked dominant chondrodysplasia punctata. J Am Acad Dermatol 1995; 33: 356-60.
16. Shirahama S, Miyahara A, Kitoh H, et al. Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata. Hum Genet 2003; 112: 78-83.
17. Offiah AC, Mansour S, Jeffrey I, et al. Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype. J Med Genet 2003; 40: e129.
18. Whittock NV, Izatt L, Mann A, et al. Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2). J Invest Dermatol 2003; 121: 939-42.
19. Rakheja D, Read CP, Hull D, et al. A severely affected female infant with X-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature. Pediatr Dev Pathol 2007; 10: 142-8.
20. Herman GE,. Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Hum Mol Genet 2003; 12(Spec. no. 1): R75-88.
21. Whittock NV, Izatt L, Simpson-Dent SL, et al. Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata. Prenat Diagn 2003; 23: 701-4.
22. Steijlen PM, van Geel M, Vreeburg M, et al. Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome. Br J Dermatol 2007; 157: 1225-9.