title: Goltz syndrome and PORCN mosaicism.
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).
authors.affiliation: Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
authors.forename: David A
authors.initials: DA
authors.lastname: Stevenson
authors.forename: Meghan
authors.initials: M
authors.lastname: Chirpich
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Contreras
authors.forename: Heather
authors.initials: H
authors.lastname: Hanson
authors.forename: Karin
authors.initials: K
authors.lastname: Dent
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000217:Acyltransferases; D005385:Fingers / Q000002:abnormalities; D005489:Focal Dermal Hypoplasia / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009030:Mosaicism; D009154:Mutation; D013576:Syndactyly / Q000235:genetics; D014034:Toes / Q000002:abnormalities
chemical_list: D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human