title: Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).
abstract: Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata, CDPX2 [Online Mendelian Inheritance in Man 302960]) is a rare genodermatosis that presents with blaschkolinear ichthyosis, cicatricial alopecia, chondrodysplasia punctata, asymmetric shortening of the bones, and cataracts. In this case report we describe a child presenting with a patterned alopecia in which supplementary signs and clinical examination of the mother led to the suspicion of Conradi-Hünermann-Happle syndrome. Mutation analysis revealed a heterozygous novel missense mutation, c.204G>T (p.W68C), in exon 2.
authors.affiliation: Department of Dermatology, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Lambrecht
authors.forename: Carine
authors.initials: C
authors.lastname: Wouters
authors.forename: Hilde
authors.initials: H
authors.lastname: Van Esch
authors.forename: Pierre
authors.initials: P
authors.lastname: Moens
authors.forename: Ingele
authors.initials: I
authors.lastname: Casteels
authors.forename: Marie-Anne
authors.initials: MA
authors.lastname: Morren
mesh_terms: D000505:Alopecia / Q000235:genetics*; D002806:Chondrodysplasia Punctata / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D020125:Mutation, Missense; D013251:Steroid Isomerases / Q000235:genetics*
chemical_list: D013251:Steroid Isomerases; C090445:EBP protein, human