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, cilt.154, sa.3, ss.119-121, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 154 Sayı: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1159/000487580
  • Dergi Adı: CYTOGENETIC AND GENOME RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.119-121
  • Anahtar Kelimeler: Focal dermal hypoplasia, Goltz-Gorlin syndrome, PORCN, X-linked dominant disease, REGULATOR
  • Hacettepe Üniversitesi Adresli: Hayır

Özet

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