Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene

European Journal of Dermatology

Volumn 20, Issue 5, 2010, Pages 634-635

  Danarti, Retno ^a   Grzeschik, Karl Heinz ^b   Radiono, Sunardi ^a   König, Arne ^b   Happle, Rudolf ^b  

^a GADJAH MADA UNIVERSITY   (Indonesia)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CLINICAL FEATURE; CONGENITAL DISORDER; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM NEVUS AND LIMB DEFECTS; DNA DETERMINATION; ECTRODACTYLY; EXON; FEMALE; GENE; HUMAN; INFANT; LETTER; NONSENSE MUTATION; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE STEROID DEHYDROGENASE LIKE PROTEIN GENE;

3-HYDROXYSTEROID DEHYDROGENASES; ABNORMALITIES, MULTIPLE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; ICHTHYOSIS; INFANT; NEVUS; SYNDROME;

EID: 77956916159     PISSN: 11671122     EISSN: 19524013     Source Type: Journal    
DOI: 10.1684/ejd.2010.0995     Document Type: Letter

References (6)

1. König A, Happle R, Bornholdt D, et al. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 2000; 90: 339-46. (Pubitemid 30084263)
2. Happle R, Koch H, Lenz W. The CHILD syndrome: congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr 1980; 134: 27-33. (Pubitemid 10068894)
3. Bornholdt D, König A, Happle R, et al. Mutational spectrum of NSDHL in CHILD syndrome. J Med Genet 2005; 42: e17.
4. Grzeschik KH. Human limb malformations: an approach to the molecular basis of development. Int J Dev Biol 2002; 46: 983-91.
5. Hummel M, Cunningham D, Mullett CJ, et al. Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. Am J Med Genet A 2003; 122A: 246-51. (Pubitemid 37152871)
6. Happle R. Mosaicism in human skin: understanding the patterns and mechanisms. Arch Dermatol 1993; 129: 1460-70. (Pubitemid 23330967)