Li Linfei, Luo Shuying, Mei Shiyue, Shang Qing, Zhang Wancun, Zhang Xiaoman, Liu Lei, Lei Zhi, Zhang Yaodong
Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Zhengzhou, Henan 450018, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Oct 10;40(10):1280-1283. doi: 10.3760/cma.j.cn511374-20221013-00685.
To analyze the clinical phenotype and genetic variant in a child with Raynaud-Claes syndrome (RCS).
A child who was diagnosed with RCS at the Children's Hospital Affiliated to Zhengzhou University for delayed language and motor development in August 2022 was selected as the study subject. Clinical data of the child were collected, and potential genetic variant was detected by next-generation sequencing and Sanger sequencing. The pathogenicity of the candidate variant was analyzed.
The child, a 4-year-and-4-month-old male, has manifested global developmental delay, speech disorders, special facial features and behavioral abnormalities. Genetic testing revealed that he has harbored a hemizygous c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene, which was not detected in either of his parents. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_Supporting).
The c.1174C>T (p.Gln392Ter) variant of the CLCN4 gene probably underlay the PCS in this child. Above finding has expanded the mutational spectrum of the CLCN4 gene and enabled genetic counseling and prenatal diagnosis for his family.
分析1例患有雷诺-克莱斯综合征（RCS）患儿的临床表型及基因变异情况。
选取2022年8月在郑州大学附属儿童医院因语言和运动发育迟缓被诊断为RCS的1例患儿作为研究对象。收集该患儿的临床资料，采用二代测序和桑格测序检测潜在的基因变异，并分析候选变异的致病性。
该患儿为4岁4个月男性，表现为全面发育迟缓、言语障碍、特殊面容及行为异常。基因检测显示，其携带CLCN4基因半合子c.1174C>T（p.Gln392Ter）变异，其父母均未检测到该变异。根据美国医学遗传学与基因组学学会（ACMG）指南，该变异被评为致病性变异（PVS1+PS2+PM2_Supporting）。
CLCN4基因的c.1174C>T（p.Gln392Ter）变异可能是该患儿患RCS的病因。上述发现扩展了CLCN4基因的突变谱，可为其家庭提供遗传咨询和产前诊断。
