Yamamoto Toshiyuki, Mencarelli Maria Antonietta, Di Marco Chiara, Mucciolo Mafalda, Vascotto Marina, Balestri Paolo, Gérard Marion, Mathieu-Dramard Michèle, Andrieux Joris, Breuning Martijn, Hoffer Mariëtte J V, Ruivenkamp Claudia A L, Shimada Shino, Sangu Noriko, Shimojima Keiko, Umezu Ryoji, Kawame Hiroshi, Matsuo Mari, Saito Kayoko, Renieri Alessandra, Mari Francesca
Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
Medical Genetics, University of Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Eur J Med Genet. 2014 Mar;57(4):163-8. doi: 10.1016/j.ejmg.2014.02.001. Epub 2014 Feb 11.
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.
15q22区域的微缺失尚未得到充分记录。我们收集了5例涉及15q22.2微缺失患者的基因型和表型数据，这些微缺失的大小在0.7 Mb至6.5 Mb之间；其中2例为新发，1例为家族性。智力残疾和癫痫在15q22.2缺失患者中经常出现。基因型-表型相关性分析将此类神经症状的关键区域缩小至一个654 Kb的基因组区域，该区域包括N-甲基-D-天冬氨酸受体调节2基因（NARG2）和PAR相关孤儿受体A基因（RORA），这两个基因中的任何一个都可能是该区域缺失患者中常见神经症状的病因。包括叉头框B1基因（FOXB1）在内的邻近区域，可能也与较大缺失患者中观察到的其他神经特征有关。
