Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency

被引：41

作者：

Capelli, Leonardo P. ^{[4
]}

Krepischi, C. V. ^{[4
]}

Gurgel-Giannetti, Juliana ^{[3
]}

Mendes, Mirian Fabiola S. ^{[2
]}

Rodrigues, Tatiane ^{[1
]}

Varela, Monica C. ^{[1
]}

Koiffmann, Celia P. ^{[1
]}

Rosenberg, Carla ^{[1
]}

机构：

[1] Univ Sao Paulo, Dept Genet & Biol Evolut, Inst Biociencias, BR-05508090 Sao Paulo, Brazil

[2] Madre Teresa Hosp, Belo Horizonte, MG, Brazil

[3] Univ Fed Minas Gerais, Dept Pediat, Belo Horizonte, MG, Brazil

[4] AC Camargo Canc Hosp, Sao Paulo, Brazil

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2012年 / 55卷 / 02期

基金：

巴西圣保罗研究基金会;

关键词：

Epilepsy; Chromosome microdeletion; CHD2; RGMA; ANGELMAN-SYNDROME; PHENOTYPE; REGION;

D O I：

10.1016/j.ejmg.2011.10.004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a novel chromosome microdeletion at 15q26.1 detected by oligo-array-CGH in a 6-year-old girl presenting with global development delay, epilepsy, autistic behavior and facial dysmorphisms. Although these features are often present in Angelman syndrome, no alterations were present in the methylation pattern of the Prader-Willi-Angelman critical region. The deletion encompasses only 2 genes: CHD2, which is part of a gene family already involved in CHARGE syndrome, and RGMA which exerts a negative control on axon growth. Deletion of either or both genes could cause the phenotype of this patient. These results provide a further chromosome region requiring evaluation in patients presenting Angelman features. (C) 2011 Elsevier Masson SAS. All rights reserved.

引用

页码：132 / 134

页数：3

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