Chen Lin, Bu Yanjiao, Yu Yuwen, Chen Yongxing, Lei Xiaoguang
First Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, 650000, China.
First Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, 650000, China.
Eur J Med Genet. 2025 Feb;73:104988. doi: 10.1016/j.ejmg.2024.104988. Epub 2024 Dec 19.
The Chromodomain Helicase DNA-binding (CHD) protein family is ATP-dependent chromatin remodeling proteins that utilize energy produced by ATP hydrolysis to regulate chromatin structure and thereby modulate gene expression. The earliest report of a CHD3 gene mutation was by O'Roak, who found it during whole exome sequencing of 189 autism families in 2012. In 2018, Snijders Blok systematically assessed the autosomal dominant neurodevelopmental disorder caused by CHD3 gene damage, known as Snijders Blok-Campeau syndrome (SNIBCPS, OMIM 618205). Its typical features include global developmental delay, speech delay, mild to severe intellectual disability, hypotonia, autism, and distinctive facial features such as macrocephaly (microcephaly in minority), prominent forehead and so on. This article reports a patient of slow speech, intellectual disability, epilepsy, spastic paraplegia, ataxia and situs inversus with a CHD3 gene mutation. The features of spastic paraplegia, ataxia, and situs inversus have not been reported previously. In conclusion, CHD3 gene mutations represent a rare disease with diverse clinical phenotypic features. This patient contributes valuable insights into the understanding of CHD3 gene mutation manifestations, expanding the scope beyond previously reported features.
染色质结构域解旋酶DNA结合（CHD）蛋白家族是依赖ATP的染色质重塑蛋白，利用ATP水解产生的能量来调节染色质结构，从而调控基因表达。最早关于CHD3基因突变的报道来自奥罗克，他在2012年对189个自闭症家庭进行全外显子组测序时发现了该突变。2018年，斯奈德·布洛赫系统评估了由CHD3基因损伤引起的常染色体显性神经发育障碍，即斯奈德·布洛赫-坎波综合征（SNIBCPS，OMIM 618205）。其典型特征包括全面发育迟缓、语言发育迟缓、轻至重度智力障碍、肌张力减退、自闭症以及独特的面部特征，如巨头畸形（少数为小头畸形）、前额突出等。本文报告了一名患有CHD3基因突变的言语迟缓、智力障碍、癫痫、痉挛性截瘫、共济失调和内脏反位的患者。痉挛性截瘫、共济失调和内脏反位的特征此前未见报道。总之，CHD3基因突变代表一种具有多样临床表型特征的罕见疾病。该患者为理解CHD3基因突变表现提供了有价值的见解，扩展了此前报道特征之外的范围。
