A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome

被引：8

作者：

Arunachal, Gautham ^{[1
]}

Danda, Sumita ^{[1
]}

Omprakash, Sabita ^{[1
]}

Kumar, Sathish ^{[2
]}

机构：

[1] MGR Univ, Dept Clin Genet, Christian Med Coll, Vellore, Tamil Nadu, India

[2] MGR Univ, Dept Paediat, Christian Med Coll, Vellore, Tamil Nadu, India

来源：

CLINICAL DYSMORPHOLOGY | 2016年 / 25卷 / 03期

关键词：

D O I：

10.1097/MCD.0000000000000126

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：101 / 105

页数：5

共 7 条

[1] ASXL1 Mutations Promote Myeloid Transformation through Loss of PRC2-Mediated Gene Repression [J].

Abdel-Wahab, Omar ;

Adli, Mazhar ;

LaFave, Lindsay M. ;

Gao, Jie ;

Hricik, Todd ;

Shih, Alan H. ;

Pandey, Suveg ;

Patel, Jay P. ;

Chung, Young Rock ;

Koche, Richard ;

Perna, Fabiana ;

Zhao, Xinyang ;

Taylor, Jordan E. ;

Park, Christopher Y. ;

Carroll, Martin ;

Melnick, Ari ;

Nimer, Stephen D. ;

Jaffe, Jacob D. ;

Aifantis, Iannis ;

Bernstein, Bradley E. ;

Levine, Ross L. .

CANCER CELL, 2012, 22 (02) :180-193

[2] De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome [J].

Bainbridge, Matthew N. ;

Hu, Hao ;

Muzny, Donna M. ;

Musante, Luciana ;

Lupski, James R. ;

Graham, Brett H. ;

Chen, Wei ;

Gripp, Karen W. ;

Jenny, Kim ;

Wienker, Thomas F. ;

Yang, Yaping ;

Sutton, V. Reid ;

Gibbs, Richard A. ;

Ropers, H. Hilger .

GENOME MEDICINE, 2013, 5

[3] Bohring-Opitz Syndrome (BOS) with a New ASXL1 Pathogenic Variant: Review of the Most Prevalent Molecular and Phenotypic Features of the Syndrome [J].

Dangiolo, Silvana Beatriz ;

Wilson, Ashley ;

Jobanputra, Vaidehi ;

Anyane-Yeboa, Kwame .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (12) :3161-3166

[4] Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis [J].

Hastings, Rob ;

Cobben, Jan-Maarten ;

Gillessen-Kaesbach, Gabriele ;

Goodship, Judith ;

Hove, Hanne ;

Kjaergaard, Susanne ;

Kemp, Helena ;

Kingston, Helen ;

Lunt, Peter ;

Mansour, Sahar ;

McGowan, Ruth ;

Metcalfe, Kay ;

Murdoch-Davis, Catherine ;

Ray, Mary ;

Rio, Marlene ;

Smithson, Sarah ;

Tolmie, John ;

Turnpenny, Peter ;

van Bon, Bregje ;

Wieczorek, Dagmar ;

Newbury-Ecob, Ruth .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (05) :513-519

[5] De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome [J].

Hoischen, Alexander ;

van Bon, Bregje W. M. ;

Rodriguez-Santiago, Benjamin ;

Gilissen, Christian ;

Vissers, Lisenka E. L. M. ;

de Vries, Petra ;

Janssen, Irene ;

van Lier, Bart ;

Hastings, Rob ;

Smithson, Sarah F. ;

Newbury-Ecob, Ruth ;

Kjaergaard, Susanne ;

Goodship, Judith ;

McGowan, Ruth ;

Bartholdi, Deborah ;

Rauch, Anita ;

Peippo, Maarit ;

Cobben, Jan M. ;

Wieczorek, Dagmar ;

Gillessen-Kaesbach, Gabriele ;

Veltman, Joris A. ;

Brunner, Han G. ;

de Vries, Bert B. B. A. .

NATURE GENETICS, 2011, 43 (08) :729-731

[6] The stability of epigenetic factor ASXL1 is regulated through ubiquitination and USP7-mediated deubiquitination [J].

Inoue, D. ;

Nishimura, K. ;

Kozuka-Hata, H. ;

Oyama, M. ;

Kitamura, T. .

LEUKEMIA, 2015, 29 (11) :2257-2260

[7] Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance [J].

Russell, Bianca ;

Johnston, Jennifer J. ;

Biesecker, Leslie G. ;

Kramer, Nancy ;

Pickart, Angela ;

Rhead, William ;

Tan, Wen-Hann ;

Brownstein, Catherine A. ;

Clarkson, L. Kate ;

Dobson, Amy ;

Rosenberg, Avi Z. ;

Vergano, Samantha A. Schrier ;

Helm, Benjamin M. ;

Harrison, Rachel E. ;

Graham, John M., Jr. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (09) :2122-2131

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