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- Title
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.
- Authors
Xiaoling Wang; Sutton, V. Reid; Peraza-Llanes, J. Omar; Zhiyin Yu; Rosetta, Rebecca; Ying-Chuck Kou; Eble, Tanya N.; Patel, Ankita; Thaller, Christina; Ping Fang; Van den Veyver, Ignatia B.
- Abstract
Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular and dental malformations. We used array comparative genomic hybridization to identify a 219-kb deletion in Xp11.23 in two affected females. We sequenced genes in this region and found heterozygous and mosaic mutations in PORCN in other affected females and males, respectively. PORCN encodes the human homolog of Drosophila melanogaster porcupine, an endoplasmic reticulum protein involved in secretion of Wnt proteins.
- Subjects
GENETIC mutation; WNT proteins; DROSOPHILA melanogaster; GENETIC disorders; GENOMICS; SKIN abnormalities; SMALL interfering RNA; DNA
- Publication
Nature Genetics, 2007, Vol 39, Issue 7, p836
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng2057