title: Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.
abstract: Focal dermal hypoplasia (FDH; Goltz-Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system, and eyes. It is caused by loss-of-function mutations in the PORCN gene. We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder.
authors.affiliation: Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. garavelli.livia@asmn.re.it
authors.forename: Livia
authors.initials: L
authors.lastname: Garavelli
authors.forename: Graziella
authors.initials: G
authors.lastname: Simonte
authors.forename: Simonetta
authors.initials: S
authors.lastname: Rosato
authors.forename: Anita
authors.initials: A
authors.lastname: Wischmeijer
authors.forename: Enrico
authors.initials: E
authors.lastname: Albertini
authors.forename: Elisa
authors.initials: E
authors.lastname: Guareschi
authors.forename: Caterina
authors.initials: C
authors.lastname: Longo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Albertini
authors.forename: Chiara
authors.initials: C
authors.lastname: Gelmini
authors.forename: Chiara
authors.initials: C
authors.lastname: Greco
authors.forename: Stefania
authors.initials: S
authors.lastname: Errico
authors.forename: Gustavo
authors.initials: G
authors.lastname: Savino
authors.forename: Marco
authors.initials: M
authors.lastname: Pavanello
authors.forename: Rudolf
authors.initials: R
authors.lastname: Happle
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: Karl-Heinz
authors.initials: KH
authors.lastname: Grzeschik
mesh_terms: D000217:Acyltransferases; D002675:Child, Preschool; D003560:Cysts / Q000209:etiology / Q000235:genetics; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000150:complications / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics*; D008850:Microphthalmos / Q000209:etiology / Q000235:genetics; D020125:Mutation, Missense; D011247:Pregnancy; D013118:Spinal Cord Diseases / Q000209:etiology* / Q000235:genetics
chemical_list: D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human