RORB gene and 9q21.13 microdeletion: Report on a patient with epilepsy and mild intellectual disability

被引：25

作者：

Baglietto, Maria Giuseppina ^{[1
]}

Caridi, Gianluca ^{[2
]}

Gimelli, Giorgio ^{[3
]}

Mancardi, Margherita ^{[1
]}

Prato, Giulia ^{[1
]}

Ronchetto, Patrizia ^{[3
]}

Cuoco, Cristina ^{[3
]}

Tassano, Elisa ^{[3
]}

机构：

[1] Ist Giannina Gaslini, Ctr Epilessie, UO Neuropsichiatria Infantile, I-16148 Genoa, Italy

[2] Ist Giannina Gaslini, Lab Fisiopatol Uremia, I-16148 Genoa, Italy

[3] Ist Giannina Gaslini, Lab Citogenet, I-16148 Genoa, Italy

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2014年 / 57卷 / 01期

关键词：

RORB gene; 9q21.13; Microdeletion; Epilepsy; Mild intellectual disability; Array-CGH; Copy number variants; TEMPORAL-LOBE EPILEPSY; EXPRESSION;

D O I：

10.1016/j.ejmg.2013.12.001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Copy number variants represent an important cause of neurodevelopmental disorders including epilepsy, which is genetically determined in 40% of cases. Epilepsy is caused by chromosomal imbalances or mutations in genes encoding subunits of neuronal voltage- or ligand-gated ion channels or proteins related to neuronal maturation and migration during embryonic development. Here, we report on a girl with mild intellectual disability and idiopathic partial epilepsy. Array-CGH analysis showed a 1.040 Mb de novo interstitial deletion at 9q21.13 band encompassing only four genes, namely RORB, TRPM6, NMRK1, OSTF1, two open reading frames (C9orf40, C9orf41), and a microRNA (MIR548H3). RORB encodes a nuclear receptor highly expressed in the retina, cortex, and thalamus. We hypothesize its role in producing the phenotype of our patient and compare this case with other ones previously reported in the literature to better identify a genotype-phenotype correlation. (C) 2013 Elsevier Masson SAS. All rights reserved.

引用

页码：44 / 46

页数：3