Whole Exome Sequencing Reveals a Novel Mutation in CUL7 in a Patient with an Undiagnosed Growth Disorder

被引：24

作者：

Dauber, Andrew ^{[1
,2
]}

Stoler, Joan ^{[3
]}

Hechter, Eliana ^{[2
]}

Safer, Jason ^{[1
]}

Hirschhom, Joel N. ^{[1
,2
,3
,4
,5
]}

机构：

[1] Childrens Hosp Boston, Div Endocrinol, Boston, MA 02115 USA

[2] Childrens Hosp Boston, Broad Inst, Program Med & Populat Genet, Boston, MA 02115 USA

[3] Childrens Hosp Boston, Div Genet, Boston, MA 02115 USA

[4] Childrens Hosp Boston, Ctr Basic & Translat Obes Res, Boston, MA 02115 USA

[5] Harvard Univ, Sch Med, Dept Genet, Boston, MA USA

来源：

JOURNAL OF PEDIATRICS | 2013年 / 162卷 / 01期

基金：

美国国家卫生研究院;

关键词：

3-M SYNDROME; DISCOVERY; FRAMEWORK;

D O I：

10.1016/j.jpeds.2012.07.055

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We present the case of a 19-year-old man with a growth disorder, which was undefined, despite extensive evaluation. Whole exome sequencing demonstrated a novel homozygous frameshift mutation in CUL7, one of the causative genes of 3-M syndrome. We discuss the utility of exome sequencing in diagnosing rare disorders. (J Pediatr 2013;162:202-4)

引用

页码：202 / U240

页数：4

共 13 条

[1] Is Autosomal Recessive Silver-Russel Syndrome a Separate Entity or Is It Part of the 3-M Syndrome Spectrum? [J].

Akawi, Nadia A. ;

Ali, Bassam R. ;

Hamamy, Hanan ;

Al-Hadidy, Azmy ;

Al-Gazali, Lihadh .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (06) :1236-1245

[2] 3M Syndrome: An Easily Recognizable yet Underdiagnosed Cause of Proportionate Short Stature [J].

Al-Dosari, Mohammed S. ;

Al-Shammari, Muneera ;

Shaheen, Ranad ;

Faqeih, Eissa ;

AlGhofely, Mohammed A. ;

Boukai, Ahmad ;

Alkuraya, Fowzan S. .

JOURNAL OF PEDIATRICS, 2012, 161 (01) :139-+

[3]

[Anonymous], 2010, NATURE, V467, P1061

[4] Exome sequencing as a tool for Mendelian disease gene discovery [J].

Bamshad, Michael J. ;

Ng, Sarah B. ;

Bigham, Abigail W. ;

Tabor, Holly K. ;

Emond, Mary J. ;

Nickerson, Deborah A. ;

Shendure, Jay .

NATURE REVIEWS GENETICS, 2011, 12 (11) :745-755

[5] A framework for variation discovery and genotyping using next-generation DNA sequencing data [J].

DePristo, Mark A. ;

Banks, Eric ;

Poplin, Ryan ;

Garimella, Kiran V. ;

Maguire, Jared R. ;

Hartl, Christopher ;

Philippakis, Anthony A. ;

del Angel, Guillermo ;

Rivas, Manuel A. ;

Hanna, Matt ;

McKenna, Aaron ;

Fennell, Tim J. ;

Kernytsky, Andrew M. ;

Sivachenko, Andrey Y. ;

Cibulskis, Kristian ;

Gabriel, Stacey B. ;

Altshuler, David ;

Daly, Mark J. .

NATURE GENETICS, 2011, 43 (05) :491-+

[6] The Genetics of 3-M Syndrome: Unravelling a Potential New Regulatory Growth Pathway [J].

Hanson, Dan ;

Murray, Philip G. ;

Black, Graeme C. M. ;

Clayton, Peter E. .

HORMONE RESEARCH IN PAEDIATRICS, 2011, 76 (06) :369-378

[7]

Holder-Espinasse M, 2010, GENEREVIEWS

[8] Identification of mutations in CUL7 in 3-M syndrome [J].

Huber, C ;

Dias-Santagata, D ;

Glaser, A ;

O'Sullivan, J ;

Brauner, R ;

Wu, K ;

Xu, XS ;

Pearce, K ;

Wang, R ;

Uzielli, MLG ;

Dagoneau, N ;

Chemaitilly, W ;

Superti-Furga, A ;

Dos Santos, H ;

Mégarbané, A ;

Morin, G ;

Gillessen-Kaesbach, G ;

Hennekam, R ;

Van der Burgt, I ;

Black, GCM ;

Clayton, PE ;

Read, A ;

Le Merrer, M ;

Scambler, PJ ;

Munnich, A ;

Pan, ZQ ;

Winter, R ;

Cormier-Daire, V .

NATURE GENETICS, 2005, 37 (10) :1119-1124

[9] Ethical Considerations Associated with Clinical Use of Next-Generation Sequencing in Children [J].

Lantos, John D. ;

Artman, Michael ;

Kingsmore, Stephen F. .

JOURNAL OF PEDIATRICS, 2011, 159 (06) :879-U24

[10] Fast and accurate short read alignment with Burrows-Wheeler transform [J].

Li, Heng ;

Durbin, Richard .

BIOINFORMATICS, 2009, 25 (14) :1754-1760

← 1 2 →