title: De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
abstract: Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous.
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: Alexander
authors.initials: A
authors.lastname: Hoischen
authors.forename: Bregje W M
authors.initials: BW
authors.lastname: van Bon
authors.forename: Benjamín
authors.initials: B
authors.lastname: Rodríguez-Santiago
authors.forename: Christian
authors.initials: C
authors.lastname: Gilissen
authors.forename: Lisenka E L M
authors.initials: LE
authors.lastname: Vissers
authors.forename: Petra
authors.initials: P
authors.lastname: de Vries
authors.forename: Irene
authors.initials: I
authors.lastname: Janssen
authors.forename: Bart
authors.initials: B
authors.lastname: van Lier
authors.forename: Rob
authors.initials: R
authors.lastname: Hastings
authors.forename: Sarah F
authors.initials: SF
authors.lastname: Smithson
authors.forename: Ruth
authors.initials: R
authors.lastname: Newbury-Ecob
authors.forename: Susanne
authors.initials: S
authors.lastname: Kjaergaard
authors.forename: Judith
authors.initials: J
authors.lastname: Goodship
authors.forename: Ruth
authors.initials: R
authors.lastname: McGowan
authors.forename: Deborah
authors.initials: D
authors.lastname: Bartholdi
authors.forename: Anita
authors.initials: A
authors.lastname: Rauch
authors.forename: Maarit
authors.initials: M
authors.lastname: Peippo
authors.forename: Jan M
authors.initials: JM
authors.lastname: Cobben
authors.forename: Dagmar
authors.initials: D
authors.lastname: Wieczorek
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: Joris A
authors.initials: JA
authors.lastname: Veltman
authors.forename: Han G
authors.initials: HG
authors.lastname: Brunner
authors.forename: Bert B B A
authors.initials: BB
authors.lastname: de Vries
mesh_terms: D018389:Codon, Nonsense / Q000235:genetics*; D003398:Craniosynostoses / Q000209:etiology* / Q000473:pathology*; D005145:Face / Q000002:abnormalities / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: C473949:ASXL1 protein, human; D018389:Codon, Nonsense; D012097:Repressor Proteins