A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus
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Dosyalar
Tarih
2016
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Elsevier Science Bv
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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.
Açıklama
Anahtar Kelimeler
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
Kaynak
European Journal of Medical Genetics
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
59
Sayı
11
