A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia

Tuerkmen S., Spielmann M., Guenes N., Knaus A., Floettmann R., Mundlos S., ...Daha Fazla

MOLECULAR SYNDROMOLOGY, cilt.8, sa.6, ss.318-324, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 6
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1159/000479721
  • Dergi Adı: MOLECULAR SYNDROMOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.318-324
  • İstanbul Üniversitesi Adresli: Evet

Özet

We described a heterozygous de novo mutation (G434V) in the frizzled class receptor 2 (FZD2) gene in a patient with distinct facial features including hypertelorism, bilateral cleft lip/palate, short nose with a broad nasal bridge, microretrognathia, and bilateral shortness of the upper limbs, first metacarpal bones, and middle phalanges of the 5th digits. The findings of our patient were compared to an autosomal dominant omodysplasia (OMOD2) family with FZD2 mutation reported in the literature. OMOD2 is a rare skeletal dysplasia and characterized by facial dysmorphism and shortness of the upper extremities and first metacarpal bones. This is the second report which supports the findings of the first family described and points out that heterozygous FZD2 mutations may be disease-causing for OMOD2. (C) 2017 S. Karger AG, Basel