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


Mutlu M. B., Cetinkaya A., Koc N., CEYLANER G., Erguner B., Aydın H., ...More

European Journal of Medical Genetics, vol.59, no.11, pp.604-606, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Letter
  • Volume: 59 Issue: 11
  • Publication Date: 2016
  • Doi Number: 10.1016/j.ejmg.2016.09.009
  • Journal Name: European Journal of Medical Genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.604-606
  • Keywords: Al-Awadi-Raas-Rothschild syndrome, WNT7A, Skeletal dysplasia, Missense mutation, Fetal ultrasonography, PHOCOMELIA-SYNDROME, FUHRMANN-SYNDROME, SCHINZEL PHOCOMELIA, CLINICAL-FEATURES, MOLECULAR-BASIS, HYPOPLASIA/APLASIA, AARRS
  • Lokman Hekim University Affiliated: No

Abstract

© 2016Al-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.