De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

被引：206

作者：

Hoischen, Alexander ^{[1
]}

van Bon, Bregje W. M. ^{[1
]}

Rodriguez-Santiago, Benjamin ^{[1
,2
,3
]}

Gilissen, Christian ^{[1
]}

Vissers, Lisenka E. L. M. ^{[1
]}

de Vries, Petra ^{[1
]}

Janssen, Irene ^{[1
]}

van Lier, Bart ^{[1
]}

Hastings, Rob ^{[4
]}

Smithson, Sarah F. ^{[4
]}

Newbury-Ecob, Ruth ^{[4
]}

Kjaergaard, Susanne ^{[5
]}

Goodship, Judith ^{[6
]}

McGowan, Ruth ^{[7
]}

Bartholdi, Deborah ^{[8
]}

Rauch, Anita ^{[8
]}

Peippo, Maarit ^{[9
]}

Cobben, Jan M. ^{[10
]}

Wieczorek, Dagmar ^{[11
]}

Gillessen-Kaesbach, Gabriele ^{[12
]}

Veltman, Joris A. ^{[1
]}

Brunner, Han G. ^{[1
]}

de Vries, Bert B. B. A. ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

[2] Univ Pompeu Fabra, Dept Ciencies Expt & Salut, Barcelona, Spain

[3] CIBERER, Barcelona, Spain

[4] St Michaels Hosp, Dept Clin Genet, Bristol, Avon, England

[5] Rigshosp, Univ Copenhagen Hosp, Dept Clin Genet, Copenhagen, Denmark

[6] Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[7] Yorkhill Hosp, Dept Med Genet, Glasgow, Lanark, Scotland

[8] Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland

[9] Family Federat Finland, Dept Med Genet, Helsinki, Finland

[10] Emma Kinderziekenhuis Acad Med Ctr AMC, Dept Pediat Genet, Amsterdam, Netherlands

[11] Univ Klinikum Essen, Inst Humangenet, Essen, Germany

[12] Univ Lubeck, Inst Humangenet Lubeck, Lubeck, Germany

来源：

NATURE GENETICS | 2011年 / 43卷 / 08期

关键词：

TRIGONOCEPHALY SYNDROME; VARIANTS; LEUKEMIA;

D O I：

10.1038/ng.868

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：729 / 731

页数：3

共 50 条

[31] DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes
Zain Awamleh
Eric Chater-Diehl
Sanaa Choufani
Elizabeth Wei
Rebecca R. Kianmahd
Anna Yu
Lauren Chad
Gregory Costain
Wen-Hann Tan
Stephen W. Scherer
Valerie A. Arboleda
Bianca E. Russell
Rosanna Weksberg
European Journal of Human Genetics, 2022, 30 : 695 - 702
[32] The ultrarare ASXL-related disorders: two novel cases of Sashi-Pena and Bohring-Opitz syndrome
Contro, Gianluca
Caraffi, Stefano
Radio, Francesca Clementina
Frattini, Daniele
Fusco, Carlo
Tartaglia, Marco
Garavelli, Livia
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 469 - 469
[33] Two cases of hepatoblastoma in Bohring-Opitz syndrome: An emerging association
Patel, Kritika
McQuaid, Shelly
Ketterl, Tyler
Benedetti, Daniel J.
Sokol, Elizabeth
PEDIATRIC BLOOD & CANCER, 2024, 71 (07)
[34] Novel truncating recessive mutations in KLHL7 gene causing Bohring-Opitz like syndrome
Bruel, A.
Bigoni, S.
Kennedy, J.
Whiteford, M.
Buxton, C.
Parmeggiani, G.
Wherlock, M.
Woodward, G.
Greenslade, M.
Williams, M.
St-Onge, J.
Ferlini, A.
Garani, G.
Ballardini, E.
Gilissen, C.
van Bon, B.
Acuna-Hildago, R.
Borhing, A.
Riviere, J.
Brunner, H. G.
Hoischen, A.
Newbury-Ecob, R.
Thauvin-Robinet, C.
Faivre, L.
Thevenon, J.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 479 - 479
[35] A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome
Osaki, M
Makita, Y
Miura, J
Abe, N
Noguchi, S
Miyamoto, A
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (08) : 897 - 899
[36] New cases of Bohring-Opitz syndrome, update, and critical review of the literature
Bohring, A
Oudesluijs, GG
Grange, DK
Zampino, G
Thierry, P
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (12) : 1257 - 1263
[37] The role of ASXL1 mutations and ASXL1 CircRNAs in cancer
Jafarbeik-Iravani, Narges
Kolahdozan, Sara
Esmaeili, Rezvan
BIOMARKERS, 2024, 29 (01) : 1 - 6
[38] ASXL1 mutations are frequent in de novo AML with trisomy 8 and confer an unfavorable prognosis
Zong, Xiangping
Yao, Hong
Wen, Lijun
Ma, Liang
Wang, Qinrong
Yang, Zhiluo
Zhang, Tongtong
Chen, Suning
Wu Depei
LEUKEMIA & LYMPHOMA, 2017, 58 (01) : 204 - 206
[39] ASXL1 Mutations Associated with Cytogenetic Findings in DE NOVO and Secondary Acute Myeloid Leukemia
Kakosaiou, K.
Daraki, A.
Apostolou, P.
Zachaki, S.
Pagoni, M.
Sambani, C.
Dimitriadis, G.
Papa, V.
Manola, K. N.
ANNALS OF HEMATOLOGY, 2015, 94 : S80 - S80
[40] ASXL1 Mutations Associated with Cytogenetic Findings in DE NOVO and Secondary Acute Myeloid Leukemia
Kakosaiou, K.
Daraki, A.
Apostolou, P.
Zachaki, S.
Pagoni, M.
Sambani, C.
Dimitriadis, G.
Papa, V.
Manola, K. N.
ANNALS OF HEMATOLOGY, 2015, 94 (SUPPL 1) : 80 - 80

← 1 2 3 4 5 →