Xiao Mengjun, Wang Fangjie, Li Yingying, Yao Xiaoli, Hou Weina, He Kun
Henan Provincial Neurodevelopment Engineering Research Center for Children, Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450066, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Oct 10;41(10):1249-1254. doi: 10.3760/cma.j.cn511374-20230616-00366.
To explore the clinical characteristics and pathogenic variant in a child with Cantú syndrome (CS).
A male who was admitted to the Children's Hospital Affiliated to Zhengzhou University on February 23, 2022 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 subjected to whole-exome sequencing (WES). Candidate variant was verified by Sanger sequencing. This study was approved by the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2023-K-087).
The child, a 3-year-and-2-month-old male, was born with hirsutism, with heavy hair all over the body and peculiar facial features. Routine echocardiography 1 month before had discovered atrial septal defect. Sequencing revealed that the child has harbored a heterozygous c.2438G>C (p.S813T) variant of the ABCC9 gene, which was de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.2438G>C variant was classified as likely pathogenic (PS2+PM2_Supporting+PP3).
The heterozygous c.2438G>C variant of the ABCC9 gene probably underlay the pathogenesis of CS in this child.
探讨1例患有坎图综合征（CS）患儿的临床特征及致病变异。
选取2022年2月23日入住郑州大学附属儿童医院的1名男性患儿作为研究对象，收集该患儿的临床资料。采集患儿及其父母的外周血样本，进行全外显子组测序（WES）。候选变异通过Sanger测序进行验证。本研究经郑州大学附属儿童医院批准（伦理编号：2023-K-087）。
该患儿为3岁2个月男性，出生时即多毛，全身毛发浓密，面部特征奇特。1个月前的常规超声心动图检查发现房间隔缺损。测序显示，该患儿携带ABCC9基因杂合c.2438G>C（p.S813T）变异，此变异为新发。根据美国医学遗传学与基因组学学会（ACMG）的指南，c.2438G>C变异被分类为可能致病（PS2+PM2_Supporting+PP3）。
ABCC9基因杂合c.2438G>C变异可能是该患儿CS发病机制的基础。
