A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability

被引：18

作者：

Cobben, J. M. ^{[1
,2
]}

Weiss, M. M. ^{[2
]}

van Dijk, F. S. ^{[2
]}

De Reuver, R. ^{[4
]}

de Kruiff, C. ^{[1
]}

Pondaag, W. ^{[3
]}

Hennekam, R. C. ^{[1
]}

Yntema, H. G. ^{[4
]}

机构：

[1] AMC Univ Hosp, Dept Pediat & Clin Genet, NL-1105 AZ Amsterdam, Netherlands

[2] Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands

[3] LUMC Univ Hosp, Dept Neurosurg, Leiden, Netherlands

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

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2014年 / 57卷 / 11-12期

关键词：

ZMYND11; Exome; Syndromic ID; 10p15.3;

D O I：

10.1016/j.ejmg.2014.09.002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a boy with severe syndromic intellectual disability who has a de novo mutation in the ZMYND11 gene. Arguments for pathogenicity of this mutation are found in cases from the literature, especially several with 10p15.3 deletions, harbouring ZMYND11. Additional reports of ZMYND11 mutations in cases with syndromic intellectual disability are needed before the ZMYND11 mutation identified in our case can be considered as definitely pathogenic. (C) 2014 Elsevier Masson SAS. All rights reserved.

引用

页码：636 / 638

页数：3

共 33 条

[31] Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient
Zhao, Zi-Ye
Jiang, Yu-Liang
Li, Bai-Rong
Yang, Fu
Li, Jing
Jin, Xiao-Wei
Ning, Shou-Bin
Sun, Shu-Han
BMC MEDICAL GENETICS, 2017, 18
[32] Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome:: paternal deletion of the epsilon-sarcoglycan (SGCE) gene
Bonnet, C.
Gregoire, M. -J.
Vibert, M.
Raffo, E.
Leheup, B.
Jonveaux, P.
JOURNAL OF HUMAN GENETICS, 2008, 53 (10) : 876 - 885
[33] Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene
C. Bonnet
M.-J. Grégoire
M. Vibert
E. Raffo
B. Leheup
P. Jonveaux
Journal of Human Genetics, 2008, 53 : 876 - 885

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