TY - JOUR
T1 - De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
AU - Hoischen, Alexander
AU - Van Bon, Bregje W.M.
AU - Rodríguez-Santiago, Benjamín
AU - Gilissen, Christian
AU - Vissers, Lisenka E.L.M.
AU - De Vries, Petra
AU - Janssen, Irene
AU - Van Lier, Bart
AU - Hastings, Rob
AU - Smithson, Sarah F.
AU - Newbury-Ecob, Ruth
AU - Kjaergaard, Susanne
AU - Goodship, Judith
AU - McGowan, Ruth
AU - Bartholdi, Deborah
AU - Rauch, Anita
AU - Peippo, Maarit
AU - Cobben, Jan M.
AU - Wieczorek, Dagmar
AU - Gillessen-Kaesbach, Gabriele
AU - Veltman, Joris A.
AU - Brunner, Han G.
AU - De Vries, Bert B.B.A.
PY - 2011/8/1
Y1 - 2011/8/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=79960909421&partnerID=8YFLogxK
U2 - 10.1038/ng.868
DO - 10.1038/ng.868
M3 - Journal articles
C2 - 21706002
AN - SCOPUS:79960909421
SN - 1061-4036
VL - 43
SP - 729
EP - 731
JO - Nature Genetics
JF - Nature Genetics
IS - 8
ER -
