title: A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus.
abstract: 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.
authors.affiliation: Medical Genetics Unit, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
authors.forename: Mehmet Burak
authors.initials: MB
authors.lastname: Mutlu
authors.affiliation: Medical Genetics Unit, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
authors.forename: Arda
authors.initials: A
authors.lastname: Cetinkaya
authors.affiliation: Pathology Unit, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
authors.forename: Nermin
authors.initials: N
authors.lastname: Koc
authors.affiliation: Intergen Genetic Center, Ankara, Turkey.
authors.forename: Gulay
authors.initials: G
authors.lastname: Ceylaner
authors.affiliation: Advanced Genomics and Bioinformatics Research Center (IGBAM), BILGEM, TUBITAK, Kocaeli, Turkey.
authors.forename: Bekir
authors.initials: B
authors.lastname: Erguner
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Namık Kemal University, Tekirdag, Turkey.
authors.forename: Hatip
authors.initials: H
authors.lastname: Aydın
authors.affiliation: Department of Family Medicine, Dr. Lutfi Kırdar Kartal Training and Research Hospital, Istanbul, Turkey.
authors.forename: Selin
authors.initials: S
authors.lastname: Karaman
authors.affiliation: Department of Obstetrics and Gynecology, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
authors.forename: Oya
authors.initials: O
authors.lastname: Demirci
authors.affiliation: Department of Radiology, Fatih Sultan Mehmet Training and Research Hospital, Istanbul, Turkey.
authors.forename: Kamber
authors.initials: K
authors.lastname: Goksu
authors.affiliation: Department of Medical Genetics, Istanbul Zeynep Kamil Women and Children Training and Research Hospital, Turkey. Electronic address: alikaramandr@hotmail.com.
authors.forename: Ali
authors.initials: A
authors.lastname: Karaman
mesh_terms: D000568:Amenorrhea / Q000235:genetics* / Q000503:physiopathology; D004480:Ectromelia / Q000235:genetics* / Q000503:physiopathology; D005121:Extremities / Q000503:physiopathology*; D005260:Female; D005333:Fetus / Q000503:physiopathology; D006801:Humans; D020125:Mutation, Missense; D010384:Pelvic Bones / Q000002:abnormalities* / Q000503:physiopathology; D017689:Polydactyly / Q000235:genetics / Q000503:physiopathology; D011247:Pregnancy; D013580:Synostosis / Q000235:genetics / Q000503:physiopathology; D014599:Uterus / Q000002:abnormalities* / Q000503:physiopathology; D051153:Wnt Proteins / Q000235:genetics*
chemical_list: C092778:WNT7A protein, human; D051153:Wnt Proteins
keywords: Al-Awadi-Raas-Rothschild syndrome; Fetal ultrasonography; Missense mutation; Skeletal dysplasia; WNT7A