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

Gustavo Savino, Livia Garavelli, Graziella Simonte, Simonetta Rosato, Anita Wischmeijer, Enrico Albertini, Elisa Guareschi, Caterina Longo, Giuseppe Albertini, Chiara Gelmini, Chiara Greco, Stefania Errico, Marco Pavanello, Rudolf Happle, Sheila Unger, Andrea Superti-Furga, Karl-Heinz Grzeschik

Risultato della ricerca: Contributo in rivistaArticolo in rivista

3 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)1750-1754
Numero di pagine5
RivistaAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume161A
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • FDH
  • Goltz–Gorlin syndrome
  • PORCN gene
  • cystic malformation of the spinal cord
  • focal dermal hypoplasia

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