TY - JOUR
T1 - Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA
AU - Yamamoto, Toshiyuki
AU - Mencarelli, Maria Antonietta
AU - Di Marco, Chiara
AU - Mucciolo, Mafalda
AU - Vascotto, Marina
AU - Balestri, Paolo
AU - Gérard, Marion
AU - Mathieu-Dramard, Michèle
AU - Andrieux, Joris
AU - Breuning, Martijn
AU - Hoffer, Mariëtte J.V.
AU - Ruivenkamp, Claudia A.L.
AU - Shimada, Shino
AU - Sangu, Noriko
AU - Shimojima, Keiko
AU - Umezu, Ryoji
AU - Kawame, Hiroshi
AU - Matsuo, Mari
AU - Saito, Kayoko
AU - Renieri, Alessandra
AU - Mari, Francesca
N1 - Funding Information:
We would like to express our gratitude to the patients and their families for their cooperation. We also would like to acknowledge the DECIPHER database for bringing together similar patients from different groups. This work was partially supported by a Grant-in-Aid for Scientific Research on Innovative Areas “Foundation of Synapse and Neurocircuit Pathology” from the Ministry of Education, Culture, Sports, Science and Technology (MEXT) (TY) ; a Grant-in-Aid for Scientific Research from Health Labor Sciences Research Grants from the Ministry of Health, Labor, and Welfare, Japan (TY) ; and a Grant-in-Aid for Young Scientists (B) from Japan Society for the Promotion of Science (JSPS) (KS) .
PY - 2014/3
Y1 - 2014/3
N2 - Microdeletions in the 15q22 region have not been well documented. We collected genotype and phenotype data from five patients with microdeletions involving 15q22.2, which were between 0.7Mb and 6.5Mb in size; two were of de novo origin and one was of familial origin. Intellectual disability and epilepsy are frequently observed in patients with 15q22.2 deletions. Genotype-phenotype correlation analysis narrowed the critical region for such neurologic symptoms to a genomic region of 654Kb including the NMDA receptor-regulated 2 gene (NARG2) and the PAR-related orphan receptor A gene (RORA), either of which may be responsible for neurological symptoms commonly observed in patients with deletions in this region. The neighboring regions, including the forkhead box B1 gene (FOXB1), may also be related to the additional neurological features observed in the patients with larger deletions.
AB - Microdeletions in the 15q22 region have not been well documented. We collected genotype and phenotype data from five patients with microdeletions involving 15q22.2, which were between 0.7Mb and 6.5Mb in size; two were of de novo origin and one was of familial origin. Intellectual disability and epilepsy are frequently observed in patients with 15q22.2 deletions. Genotype-phenotype correlation analysis narrowed the critical region for such neurologic symptoms to a genomic region of 654Kb including the NMDA receptor-regulated 2 gene (NARG2) and the PAR-related orphan receptor A gene (RORA), either of which may be responsible for neurological symptoms commonly observed in patients with deletions in this region. The neighboring regions, including the forkhead box B1 gene (FOXB1), may also be related to the additional neurological features observed in the patients with larger deletions.
KW - 15q22.2
KW - Epilepsy
KW - Forkhead box B1 (FOXB1)
KW - Intellectual disability
KW - Microdeletion
KW - NMDA receptor-regulated 2 (NARG2)
KW - RAR-related orphan receptor A (RORA)
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U2 - 10.1016/j.ejmg.2014.02.001
DO - 10.1016/j.ejmg.2014.02.001
M3 - Article
C2 - 24525055
AN - SCOPUS:84898431255
VL - 57
SP - 163
EP - 168
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 4
ER -