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Goltz syndrome and PORCN mosaicism
Author(s) -
Stevenson David A.,
Chirpich Meghan,
Contreras Yvonne,
Hanson Heather,
Dent Karin
Publication year - 2014
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.12605
Subject(s) - medicine , poikiloderma , ectodermal dysplasia , hypoplasia , genodermatosis , germline mosaicism , aplasia , dysostosis , dermatology , phenotype , congenital disease , genetics , anatomy , biology , surgery , gene
G oltz 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. G oltz 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 G oltz syndrome with low‐level mosaicism for a novel mutation in PORCN from peripheral blood (c.956dup A ; p.Asn320 G lufs X 99).