A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus

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Mutlu M. B., Cetinkaya A., Koc N., Ceylaner G., Erguner B., Aydin H., ...Daha Fazla

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.59, sa.11, ss.604-606, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59 Sayı: 11
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1016/j.ejmg.2016.09.009
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.604-606
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Al-Awadi-Raas-Rothschild syndrome (AARRS) is a rare autosomal recessive disorder which consists of severe malformations of the upper and lower limbs, abnormal genitalia and underdeveloped pelvis. Here, we present a fetus with severe limbs defects, including bilateral humeroradial synostosis, bilateral oligodactyly in hands, underdeveloped pelvis, short femora and tibiae, absence of fibulae, severely small feet, and absence of uterus. An autosomal recessively inherited novel mutation in WNT7A found in the fetus, c.304C > T, affects an evolutionarily well-conserved amino acid, causing the p.(R102W) missense change at protein level. The findings presented in this fetus are compatible with diagnosis of AARRS, expanding the mutational spectrum of limb malformations arising from defects in WNT7A. Crown Copyright (C) 2016 Published by Elsevier Masson SAS. All rights reserved.