Goltz syndrome and PORCN mosaicism. (11th July 2014)

• Record Type: Journal Article
• Authors: Stevenson, David A.; Chirpich, Meghan; Contreras, Yvonne; Hanson, Heather; Dent, Karin
• Is Part Of: International journal of dermatology. Volume 53:Number 12(2014:Dec.)
• Page Start: 1481
• Page End: 1484
• Publication Date: 2014-07-11
• Subjects: Dermatology -- Periodicals; 616.5
• DOI: 10.1111/ijd.12605
• Languages: English
• ISSNs: 0011-9059

Abstract

<abstract abstract-type="main" id="ijd12605-abs-0001"> <title>Abstract</title> <p>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 <italic>PORCN</italic>, with a predominance of females affected. Germline mutations in <italic>PORCN</italic> 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 <italic>PORCN</italic> from peripheral blood (c.956dupA; p.Asn320GlufsX99).</p> </abstract>