| Literature DB >> 24525055 |
Toshiyuki Yamamoto1, Maria Antonietta Mencarelli2, Chiara Di Marco2, Mafalda Mucciolo3, Marina Vascotto4, Paolo Balestri4, Marion Gérard5, Michèle Mathieu-Dramard5, Joris Andrieux5, Martijn Breuning6, Mariëtte J V Hoffer6, Claudia A L Ruivenkamp6, Shino Shimada7, Noriko Sangu8, Keiko Shimojima9, Ryoji Umezu10, Hiroshi Kawame11, Mari Matsuo12, Kayoko Saito12, Alessandra Renieri2, Francesca Mari2.
Abstract
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 0.7 Mb and 6.5 Mb 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 654 Kb 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. CrownEntities:
Keywords: 15q22.2; Epilepsy; Forkhead box B1 (FOXB1); Intellectual disability; Microdeletion; NMDA receptor-regulated 2 (NARG2); RAR-related orphan receptor A (RORA)
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Year: 2014 PMID： 24525055 DOI： 10.1016/j.ejmg.2014.02.001
Source DB: PubMed Journal: Eur J Med Genet ISSN： 1769-7212 Impact factor: 2.708