title: Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.
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.
authors.affiliation: Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: Xiaoling
authors.initials: X
authors.lastname: Wang
authors.forename: V
authors.initials: V
authors.lastname: Reid Sutton
authors.forename: J
authors.initials: J
authors.lastname: Omar Peraza-Llanes
authors.forename: Zhiyin
authors.initials: Z
authors.lastname: Yu
authors.forename: Rebecca
authors.initials: R
authors.lastname: Rosetta
authors.forename: Ying-Chuck
authors.initials: YC
authors.lastname: Kou
authors.forename: Tanya N
authors.initials: TN
authors.lastname: Eble
authors.forename: Ankita
authors.initials: A
authors.lastname: Patel
authors.forename: Christina
authors.initials: C
authors.lastname: Thaller
authors.forename: Ping
authors.initials: P
authors.lastname: Fang
authors.forename: Ignatia B
authors.initials: IB
authors.lastname: Van den Veyver
mesh_terms: D000217:Acyltransferases; D001483:Base Sequence; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000235:genetics*; D050172:Genes, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D017354:Point Mutation; D017384:Sequence Deletion; D015398:Signal Transduction / Q000235:genetics*; D051153:Wnt Proteins / Q000502:physiology*
chemical_list: D008565:Membrane Proteins; D051153:Wnt Proteins; D000217:Acyltransferases; C491188:PORCN protein, human