Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

Xiaoling Wang; V. Reid Sutton; J. Omar Peraza-Llanes; Zhiyin Yu; Rebecca Rosetta; Ying Chuck Kou; Tanya N. Eble; Ankita Patel; Christina Thaller; Ping Fang; Ignatia B. Van Den Veyver

doi:10.1038/ng2057

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

Xiaoling Wang
, V. Reid Sutton
, J. Omar Peraza-Llanes
, Zhiyin Yu
, Rebecca Rosetta
, Ying Chuck Kou
, Tanya N. Eble
, Ankita Patel
, Christina Thaller
, Ping Fang
, Ignatia B. Van Den Veyver

Research output: Contribution to journal › Article › peer-review

250 Scopus citations

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.

Original language	English
Pages (from-to)	836-838
Number of pages	3
Journal	Nature Genetics
Volume	39
Issue number	7
DOIs	https://doi.org/10.1038/ng2057
State	Published - Jul 2007
Externally published	Yes

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@article{5180b2ce64544366affc9fc35458e9ad,

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.",

author = "Xiaoling Wang and \{Reid Sutton\}, V. and \{Omar Peraza-Llanes\}, J. and Zhiyin Yu and Rebecca Rosetta and Kou, \{Ying Chuck\} and Eble, \{Tanya N.\} and Ankita Patel and Christina Thaller and Ping Fang and \{Van Den Veyver\}, \{Ignatia B.\}",

note = "Funding Information: We thank research subjects and their families for their participation in the research and all clinicians and genetic counselors who referred patients. We thank H.Y. Zoghbi and A.L. Beaudet for critical reading and discussions during preparation of this manuscript and L. Cooper, W. Jin and A. Casillas for technical assistance. This work was funded by the National Foundation for Ectodermal Dysplasias, in part by US National Institutes of Health (NIH) grant HD051805 Funding Information: and by the Tissue Culture Core, Genome Analysis Core and Gene Expression Core Laboratories of the Baylor College of Medicine Mental Retardation and Developmental Disabilities Research Center (NIH grant HD024064).",

year = "2007",

month = jul,

doi = "10.1038/ng2057",

language = "English",

volume = "39",

pages = "836--838",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "7",

}

TY - JOUR

T1 - Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

AU - Wang, Xiaoling

AU - Reid Sutton, V.

AU - Omar Peraza-Llanes, J.

AU - Yu, Zhiyin

AU - Rosetta, Rebecca

AU - Kou, Ying Chuck

AU - Eble, Tanya N.

AU - Patel, Ankita

AU - Thaller, Christina

AU - Fang, Ping

AU - Van Den Veyver, Ignatia B.

N1 - Funding Information: We thank research subjects and their families for their participation in the research and all clinicians and genetic counselors who referred patients. We thank H.Y. Zoghbi and A.L. Beaudet for critical reading and discussions during preparation of this manuscript and L. Cooper, W. Jin and A. Casillas for technical assistance. This work was funded by the National Foundation for Ectodermal Dysplasias, in part by US National Institutes of Health (NIH) grant HD051805 Funding Information: and by the Tissue Culture Core, Genome Analysis Core and Gene Expression Core Laboratories of the Baylor College of Medicine Mental Retardation and Developmental Disabilities Research Center (NIH grant HD024064).

PY - 2007/7

Y1 - 2007/7

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/34347341670

U2 - 10.1038/ng2057

DO - 10.1038/ng2057

M3 - Article

C2 - 17546030

AN - SCOPUS:34347341670

SN - 1061-4036

VL - 39

SP - 836

EP - 838

JO - Nature Genetics

JF - Nature Genetics

IS - 7

ER -

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

Abstract

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