Goltz syndrome and PORCN mosaicism

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

Research output: Contribution to journalArticlepeer-review

9 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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