A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism

被引：13
|
作者：
Jonsson, Dagur Ingi [1 ,2 ]
Ludvigsson, Petur [3 ]
Aradhya, Swaroop [4 ]
Sigurdardottir, Sunna [1 ,2 ]
Steinarsdottir, Margret [1 ,2 ]
Hauksdottir, Helga [1 ,2 ]
Jonsson, Jon Johannes [1 ,2 ]
机构：
[1] Univ Iceland, Fac Med, Dept Biochem & Mol Biol, IS-101 Reykjavik, Iceland
[2] Landspitali Natl Univ Hosp Iceland, Dept Genet & Mol Med, Reykjavik, Iceland
[3] Landspitali Natl Univ Hosp Iceland, Dept Pediat, Reykjavik, Iceland
[4] GeneDx, Gaithersburg, MD USA
来源：
EUROPEAN JOURNAL OF MEDICAL GENETICS | 2012年 / 55卷 / 6-7期
基金：
英国惠康基金;
关键词：
Array-CGH; Microdeletion; Arthrogryposis; Intellectual disability; HOX genes; TARGETED DISRUPTION; GENES; MOUSE; CLUSTER; MICE;
D O I：
10.1016/j.ejmg.2012.03.001
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A girl presented with congenital arthrogryposis, intellectual disability and mild bone-related dysmorphism. Molecular workup including the NimbleGen Human CGH 2.1 M platform revealed a 1.13 Mb de novo microdeletion on chromosome 12q13.13 of paternal origin. The deletion contains 33 genes, including AAAS, AMRH2, and RARG genes as well as the HOXC gene cluster. At least one gene, CSAD, is expressed in fetal brain. The deletion partially overlaps number of reported benign CNVs and pathogenic duplications. This case appears to represent a previously unknown microdeletion syndrome and possibly the first description in humans of a disease phenotype associated with copy loss of HOXC genes. (c) 2012 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码：437 / 440
页数：4
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