Goltz syndrome and PORCN mosaicism

• Published in: International journal of dermatology Vol. 53; no. 12; pp. 1481 - 1484
• Main Authors: Stevenson, David A., Chirpich, Meghan, Contreras, Yvonne, Hanson, Heather, Dent, Karin
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 01-12-2014
• Subjects: Abnormalities, Multiple - genetics; Acyltransferases; Fingers - abnormalities; Focal Dermal Hypoplasia - genetics; Humans; Infant, Newborn; Male; Membrane Proteins - genetics; Mosaicism; Mutation; Syndactyly - genetics; Toes - abnormalities
• ISSN: 0011-9059; 1365-4632
• DOI: 10.1111/ijd.12605

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).