Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
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- 3 June 2007
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 39 (7) , 836-838
- https://doi.org/10.1038/ng2057
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.Keywords
This publication has 16 references indexed in Scilit:
- Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic regionHuman Genetics, 2007
- Monounsaturated Fatty Acid Modification of Wnt Protein: Its Role in Wnt SecretionDevelopmental Cell, 2006
- Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System DisordersNeuron, 2006
- Drosophila Wnt-1 Undergoes a Hydrophobic Modification and Is Targeted to Lipid Rafts, a Process That Requires PorcupineJournal of Biological Chemistry, 2004
- Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlationHuman Mutation, 2004
- Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctataHuman Genetics, 2003
- Drosophila Segment Polarity Gene Product Porcupine Stimulates the Posttranslational N-Glycosylation of Wingless in the Endoplasmic ReticulumJournal of Biological Chemistry, 2002
- Father‐to‐daughter transmission of focal dermal hypoplasia associated with nonrandom X‐inactivation: Support for X‐linked inheritance and paternal X chromosome mosaicismAmerican Journal of Medical Genetics, 1991
- Focal dermal hypoplasia syndrome: Case report and literature reviewJournal of the American Academy of Dermatology, 1983
- Focal dermal hypoplasia syndrome. An electron microscopical study of the skin lesionsJournal of Cutaneous Pathology, 1982