De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Alexander Hoischen; Bregje W. M. van Bon; Benjamín Rodríguez-Santiago; Christian Gilissen; Lisenka E. L. M. Vissers; Petra de Vries; Irene Janssen; Bart van Lier; Rob Hastings; Sarah F. Smithson; Ruth Newbury-Ecob; Susanne Kjaergaard; Judith Goodship; Ruth McGowan; Deborah Bartholdi; Anita Rauch; Maarit Peippo; Jan M. Cobben; Dagmar Wieczorek; Gabriele Gillessen-Kaesbach; Joris A. Veltman; Han G. Brunner; Bert B. B. A. de Vries

doi:10.1038/ng.868

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Alexander Hoischen
, Bregje W. M. van Bon
, Benjamín Rodríguez-Santiago
, Christian Gilissen
, Lisenka E. L. M. Vissers
, Petra de Vries
, Irene Janssen
, Bart van Lier
, Rob Hastings
, Sarah F. Smithson
, Ruth Newbury-Ecob
, Susanne Kjaergaard
, Judith Goodship
, Ruth McGowan
, Deborah Bartholdi
, Anita Rauch
, Maarit Peippo
, Jan M. Cobben
, Dagmar Wieczorek
, Gabriele Gillessen-Kaesbach

Joris A. Veltman, Han G. Brunner, Bert B. B. A. de Vries

Research output: Contribution to journal › Article › Academic › peer-review

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

Original language	English
Pages (from-to)	729-731
Journal	Nature genetics
Volume	43
Issue number	8
DOIs	https://doi.org/10.1038/ng.868
Publication status	Published - 2011

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Hoischen, A., van Bon, B. W. M., Rodríguez-Santiago, B., Gilissen, C., Vissers, L. E. L. M., de Vries, P., Janssen, I., van Lier, B., Hastings, R., Smithson, S. F., Newbury-Ecob, R., Kjaergaard, S., Goodship, J., McGowan, R., Bartholdi, D., Rauch, A., Peippo, M., Cobben, J. M., Wieczorek, D., ... de Vries, B. B. B. A. (2011). De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nature genetics, 43(8), 729-731. https://doi.org/10.1038/ng.868

@article{d99c9c9511154f758496c5537ae36dcd,

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",

author = "Alexander Hoischen and \{van Bon\}, \{Bregje W. M.\} and Benjam{\'i}n Rodr{\'i}guez-Santiago and Christian Gilissen and Vissers, \{Lisenka E. L. M.\} and \{de Vries\}, Petra and Irene Janssen and \{van Lier\}, Bart and Rob Hastings and Smithson, \{Sarah F.\} and Ruth Newbury-Ecob and Susanne Kjaergaard and Judith Goodship and Ruth McGowan and Deborah Bartholdi and Anita Rauch and Maarit Peippo and Cobben, \{Jan M.\} and Dagmar Wieczorek and Gabriele Gillessen-Kaesbach and Veltman, \{Joris A.\} and Brunner, \{Han G.\} and \{de Vries\}, \{Bert B. B. A.\}",

year = "2011",

doi = "10.1038/ng.868",

language = "English",

volume = "43",

pages = "729--731",

journal = "Nature genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "8",

}

Hoischen, A, van Bon, BWM, Rodríguez-Santiago, B, Gilissen, C, Vissers, LELM, de Vries, P, Janssen, I, van Lier, B, Hastings, R, Smithson, SF, Newbury-Ecob, R, Kjaergaard, S, Goodship, J, McGowan, R, Bartholdi, D, Rauch, A, Peippo, M, Cobben, JM, Wieczorek, D, Gillessen-Kaesbach, G, Veltman, JA, Brunner, HG & de Vries, BBBA 2011, 'De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome', Nature genetics, vol. 43, no. 8, pp. 729-731. https://doi.org/10.1038/ng.868

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

Y1 - 2011

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

U2 - 10.1038/ng.868

DO - 10.1038/ng.868

M3 - Article

C2 - 21706002

SN - 1061-4036

VL - 43

SP - 729

EP - 731

JO - Nature genetics

JF - Nature genetics

IS - 8

ER -

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Abstract

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