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

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dc.authorid0000-0003-3425-2727
dc.authorscopusid57191854421
dc.authorscopusid55362336500
dc.authorscopusid36113529700
dc.authorscopusid16678684600
dc.authorscopusid15123721400
dc.authorscopusid56553790900
dc.authorscopusid56566268200
dc.authorwosidaydin, hatip/AAE-5540-2021
dc.authorwosidAYDIN, Hatip/A-2711-2017
dc.authorwosidmutlu, mehmet/AAL-6738-2021
dc.authorwosidKaraman, Ali/V-5164-2019
dc.authorwosidDemirci, Oya/A-3797-2019
dc.contributor.authorMutlu, Mehmet Burak
dc.contributor.authorÇetinkaya, Arda
dc.contributor.authorKoç, Nermin
dc.contributor.authorCeylaner, Gülay
dc.contributor.authorErgüner, Bekir
dc.contributor.authorAydın, Hatip
dc.contributor.authorKaraman, Ali
dc.date.accessioned2022-05-11T14:41:13Z
dc.date.available2022-05-11T14:41:13Z
dc.date.issued2016
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.description.abstractAl-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.
dc.identifier.doi10.1016/j.ejmg.2016.09.009
dc.identifier.endpage606
dc.identifier.issn1769-7212
dc.identifier.issn1878-0849
dc.identifier.issue11en_US
dc.identifier.pmid27638328
dc.identifier.scopus2-s2.0-84994320599
dc.identifier.scopusqualityQ2
dc.identifier.startpage604
dc.identifier.urihttps://doi.org/10.1016/j.ejmg.2016.09.009
dc.identifier.urihttps://hdl.handle.net/20.500.11776/9110
dc.identifier.volume59
dc.identifier.wosWOS:000388283500010
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAydın, Hatip
dc.language.isoen
dc.publisherElsevier Science Bv
dc.relation.ispartofEuropean Journal of Medical Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectAl-Awadi-Raas-Rothschild syndrome
dc.subjectWNT7A
dc.subjectSkeletal dysplasia
dc.subjectMissense mutation
dc.subjectFetal ultrasonography
dc.subjectPhocomelia-Syndrome
dc.subjectFuhrmann-Syndrome
dc.subjectSchinzel Phocomelia
dc.subjectClinical-Features
dc.subjectMolecular-Basis
dc.subjectHypoplasia/Aplasia
dc.subjectAarrs
dc.titleA novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus
dc.typeArticle

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