Mutational spectrum of NSDHL in CHILD syndrome

• Published in: Journal of medical genetics Vol. 42; no. 2; p. e17
• Main Authors: Bornholdt, D, König, A, Happle, R, Leveleki, L, Bittar, M, Danarti, R, Vahlquist, A, Tilgen, W, Reinhold, U, Poiares Baptista, A, Grosshans, É, Vabres, P, Niiyama, S, Sasaoka, K, Tanaka, T, Meiss, A L, Treadwell, P A, Lambert, D, Camacho, F, Grzeschik, K-H
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01-02-2005; BMJ Publishing Group LTD; BMJ Group
• Subjects: 3-Hydroxysteroid Dehydrogenases - genetics; Adolescent; Amino Acid Sequence; Amino acids; Biosynthesis; CHILD; Cholesterol; congenital hemidysplasia with ichthyosiform naevus and limb defects; Dehydrogenases; developmental defect; DNA Mutational Analysis; Enzymes; Female; Humans; ichthyosis; Ichthyosis - diagnosis; Ichthyosis - genetics; Limb Deformities, Congenital - diagnosis; Limb Deformities, Congenital - genetics; MAPH; measurement by amplifiable probe hybridisation; Molecular Sequence Data; Mutation; Mutation, Missense; NAD(P)H steroid dehydrogenase-like protein; Nevus - diagnosis; Nevus - genetics; NSDHL; Online Mutation Report; Point Mutation; Polymorphism, Single Nucleotide; Proteins; Sequence Alignment; Sequence Deletion; single strand conformation analysis; SSCA; Sterols; Vertebrae
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2004.024448

[...]their case had all the clinical features of X linked dominant chondrodysplasia punctata but none of the morphological criteria of CHILD syndrome. 1, 22 Hence there is so far no case report of CHILD syndrome showing a mutation outside the NSDHL locus.