期刊
BRAIN & DEVELOPMENT
卷 41, 期 3, 页码 276-279出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2018.10.003
关键词
GATAD2B; Intellectual disability; Haploinsufficiency; Hypotonia; Neuroradiological findings
资金
- Japan Agency for Medical Research and Development, Japan [16ek0109166h0002]
Background: The human GATA zinc finger domain containing 2B (GATAD2B) encodes a subunit of the MeCPI-Mi-2/nucleosome remodeling and deacetylase complex, which is involved in chromatin modification and transcription. Recently, patients with severe intellectual disabilities and characteristic features associated with GATAD2B mutations have been identified. Case report: The patient was a 4-year-old male with dysmorphic features, including frontal bossing, hypertelorism, epicanthal folds, down-slanting palpebral fissures, a flat nasal bridge, a high arched palate, and micrognathia. He spoke no meaningful words and exhibited severe intellectual disability. Hypermetropic astigmatism and mild spasticity of the lower extremities were noted. Whole-exome sequencing revealed a de novo missense mutation in GATAD2B (NM_020699:exon4:c.502C>T; p.(Glu168*)). Conclusion: We report a novel GATAD2B mutation in a boy exhibiting bilateral leg spasticity and white matter abnormalities on brain magnetic resonance imaging. (C) 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据