Goltz syndrome and PORCN mosaicism

David A. Stevenson, Meghan Chirpich, Yvonne Contreras, Heather Hanson, Karin Dent

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

Goltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia, dermal hypoplasia, papillomas, chorioretinal colobomas, absent/dysplastic teeth, and skeletal anomalies. Goltz syndrome is an X-linked disorder due to mutations in PORCN, with a predominance of females affected. Germline mutations in PORCN are thought to result in embryonically lethality in males. We present a boy with a phenotype consistent with Goltz syndrome with low-level mosaicism for a novel mutation in PORCN from peripheral blood (c.956dupA; p.Asn320GlufsX99).

Original languageEnglish (US)
Pages (from-to)1481-1484
Number of pages4
JournalInternational Journal of Dermatology
Volume53
Issue number12
DOIs
StatePublished - Dec 1 2014
Externally publishedYes

ASJC Scopus subject areas

  • Dermatology

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