title: A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.
abstract: Acrocallosal syndrome (ACLS) is a rare genetic disorder typically characterized by craniofacial dysmorphism, agenesis, or hypoplasia of the corpus callosum, and duplication of the phalanges of halluces and/or the thumbs. ACLS is a recessive ciliopathy caused by mutations in KIF7. We identified a Turkish family who had a novel homozygous sequence change, c.2593-2A>C, located at the acceptor splice site of intron 12 of KIF7 (IVS12-2A>C). The present report will contribute towards further understanding of the genotype-phenotype correlation in ACLS caused by KIF7 mutations.
authors.affiliation: aIntergen Genetic Diseases Diagnostic Center, Ankara bMedical Genetics Clinic, Women and Children Hospital, Mersin cRadiology Department, School Of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey dDepartment of Histology-Embryology and Cytogenetics, Necker-Enfants malades Hospital, AP-HP eParis Descartes - Sorbonne Paris Cité University, Imagine Institute fINSERM UMR 1163, Embryology and Genetics of Human Malformation, Paris, France.
authors.forename: Kadri
authors.initials: K
authors.lastname: Karaer
authors.forename: Zafer
authors.initials: Z
authors.lastname: Yuksel
authors.forename: Amale
authors.initials: A
authors.lastname: Ichkou
authors.forename: Cuneyt
authors.initials: C
authors.lastname: Calisir
authors.forename: Tania
authors.initials: T
authors.lastname: Attié-Bitach
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D055673:Acrocallosal Syndrome / Q000235:genetics* / Q000503:physiopathology; D061085:Agenesis of Corpus Callosum / Q000235:genetics / Q000503:physiopathology; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000503:physiopathology; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D016547:Kinesins / Q000235:genetics*; D008297:Male; D009154:Mutation; D017689:Polydactyly / Q000235:genetics / Q000503:physiopathology; D022821:RNA Splice Sites / Q000235:genetics; D035781:Siblings
chemical_list: C502069:KIF7 protein, human; D022821:RNA Splice Sites; D016547:Kinesins