TY - JOUR
T1 - RORB gene and 9q21.13 microdeletion
T2 - Report on a patient with epilepsy and mild intellectual disability
AU - Baglietto, Maria Giuseppina
AU - Caridi, Gianluca
AU - Gimelli, Giorgio
AU - Mancardi, Margherita
AU - Prato, Giulia
AU - Ronchetto, Patrizia
AU - Cuoco, Cristina
AU - Tassano, Elisa
PY - 2014/1
Y1 - 2014/1
N2 - 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.
AB - 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.
KW - 9q21.13 Microdeletion
KW - Array-CGH
KW - Copy number variants
KW - Epilepsy
KW - Mild intellectual disability
KW - RORB gene
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U2 - 10.1016/j.ejmg.2013.12.001
DO - 10.1016/j.ejmg.2013.12.001
M3 - Article
C2 - 24355400
AN - SCOPUS:84892513273
VL - 57
SP - 44
EP - 46
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 1
ER -