一名患有智力障碍和特殊畸形的患者中发现的新型SYNGAP1变异体。
Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.
作者信息
Kimura Yuichi, Akahira-Azuma Moe, Harada Noriaki, Enomoto Yumi, Tsurusaki Yoshinori, Kurosawa Kenji
机构信息
Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
出版信息
Congenit Anom (Kyoto). 2018 Nov;58(6):188-190. doi: 10.1111/cga.12273. Epub 2018 Feb 13.
We describe a novel de novo heterozygous variant in SYNGAP1 (c.1741C>T, p.R581W), identified through targeted resequencing in an 8-year-old boy with intellectual disability, autism spectrum disorder, distinctive dysmorphic features, and no seizures. Our data strongly suggest that the SYNGAP1 variant is causative of intellectual disability in this patient.
我们描述了一种在SYNGAP1基因中发现的新型从头杂合变异（c.1741C>T，p.R581W），该变异是通过对一名8岁男孩进行靶向重测序鉴定出来的。该男孩患有智力障碍、自闭症谱系障碍、独特的畸形特征且无癫痫发作。我们的数据强烈表明，SYNGAP1基因变异是该患者智力障碍的病因。
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