A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report

Durmaz C. D., McGrath J., Liu L., KARABULUT H. G.

CYTOGENETIC AND GENOME RESEARCH, vol.154, no.3, pp.119-121, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 154 Issue: 3
  • Publication Date: 2018
  • Doi Number: 10.1159/000487580
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.119-121
  • Keywords: Focal dermal hypoplasia, Goltz-Gorlin syndrome, PORCN, X-linked dominant disease, REGULATOR
  • Hacettepe University Affiliated: No


Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant geno-dermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11.23, and 90% of individuals with FDH are females. Here, we report a female patient with cutaneous changes, multiple eye anomalies, short stature, and ectrodactyly of the right foot. These clinical findings were compatible with the diagnosis of FDH, and a novel mutation, NM_022825.3:c.488deIG was found in the PORCN gene causing a premature stop codon. (C) 2018 S. Karger AG, Basel