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.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Wang X,Reid Sutton V,Omar Peraza-Llanes J,Yu Z,Rosetta R,Kou YC,Eble TN,Patel A,Thaller C,Fang P,Van den Veyver IBdoi
10.1038/ng2057subject
Has Abstractpub_date
2007-07-01 00:00:00pages
836-8issue
7eissn
1061-4036issn
1546-1718pii
ng2057journal_volume
39pub_type
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