Li Yuke, Wang Xiaona, Liu Mengyuan, Gao Yang, Chen Baiyun, Mei Daoqi, Zhang Huichun, Gao Chao
Department of Rehabilitation Medicine, Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital/Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Apr 10;40(4):402-407. doi: 10.3760/cma.j.cn511374-20221108-00768.
To analyze the clinical phenotype and genetic variant of a child with Snijders Blok-Campeau syndrome (SBCS).
A child who was diagnosed with SBCS in June 2017 at Henan Children's Hospital was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and the extraction of genomic DNA, which was subjected to trio-whole exome sequencing (trio-WES) and genome copy number variation (CNV) analysis. Candidate variant was verified by Sanger sequencing of his pedigree members.
The main clinical manifestations of the child have included language delay, intellectual impairment and motor development delay, which were accompanied with facial dysmorphisms (broad forehead, inverted triangular face, sparse eyebrows, widely spaced eyes, narrow palpebral fissures, broad nose bridge, midface hypoplasia, thin upper lip, pointed jaw, low-set ears and posteriorly rotated ears). Trio-WES and Sanger sequencing revealed that the child has harbored a heterozygous splicing variant of the CHD3 gene, namely c.4073-2A>G, for which both of his parents were of wild-type. No pathogenic variant was identified by CNV testing.
The c.4073-2A>G splicing variant of the CHD3 gene probably underlay the SBCS in this patient.
分析1例患有斯奈德氏布洛克 - 坎波综合征（SBCS）患儿的临床表型及基因变异情况。
选取2017年6月在河南省儿童医院被诊断为SBCS的1例患儿作为研究对象，收集该患儿的临床资料，采集患儿及其父母的外周血样本，提取基因组DNA，进行三人全外显子组测序（trio-WES）及基因组拷贝数变异（CNV）分析，并通过对其家系成员进行Sanger测序验证候选变异。
该患儿主要临床表现为语言发育迟缓、智力障碍及运动发育迟缓，伴有面部畸形（宽额头、倒三角脸、眉毛稀疏、眼距宽、睑裂窄、鼻梁宽、面中部发育不全、上唇薄、下颌尖、耳低位及耳后旋）。三人全外显子组测序及Sanger测序显示，该患儿携带CHD3基因的杂合剪接变异，即c.4073-2A>G，其父母均为野生型。CNV检测未发现致病变异。
CHD3基因的c.4073-2A>G剪接变异可能是该患者SBCS的病因。
