title: Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.
abstract: A pair of sisters was ascertained for multiple congenital defects, including marked craniofacial dysmorphisms with blepharophimosis, and severe psychomotor delay. Two novel compound heterozygous mutations in UBE3B were identified in both the sisters by exome sequencing. These mutations include c.1A>G, which predicts p.Met1?, and a c.1773delC variant, predicted to cause a frameshift at p.Phe591fs. UBE3B encodes a widely expressed protein ubiquitin ligase E3B, which, when mutated in both alleles, causes Kaufman oculocerebrofacial syndrome. We report on the thorough clinical examination of the patients and review the state of art knowledge of this disorder.
authors.affiliation: Department of Medical Genetics, Oslo University Hospital and University of Oslo, Norway.
authors.forename: Christeen Ramane J
authors.initials: CR
authors.lastname: Pedurupillay
authors.forename: Tuva
authors.initials: T
authors.lastname: Barøy
authors.forename: Asbjørn
authors.initials: A
authors.lastname: Holmgren
authors.forename: Anne
authors.initials: A
authors.lastname: Blomhoff
authors.forename: Magnus D
authors.initials: MD
authors.lastname: Vigeland
authors.forename: Ying
authors.initials: Y
authors.lastname: Sheng
authors.forename: Eirik
authors.initials: E
authors.lastname: Frengen
authors.forename: Petter
authors.initials: P
authors.lastname: Strømme
authors.forename: Doriana
authors.initials: D
authors.lastname: Misceo
mesh_terms: D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D059472:Exome; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C482647:UBE3B protein, human; D044767:Ubiquitin-Protein Ligases
keywords: Kaufman oculocerebrofacial syndrome; UBE3B; congenital defects; craniofacial dysmorphisms; developmental delay; ubiquitination; whole exome sequencing