Clinical characteristics and genetic analysis of a child with Cantú syndrome due to variant of ABCC9 gene
10.3760/cma.j.cn511374-20230616-00366
- VernacularTitle:ABCC9基因变异所致Cantú综合征1例患儿的临床特征及遗传学分析
- Author:
Mengjun XIAO
1
;
Fangjie WANG
;
Yingying LI
;
Xiaoli YAO
;
Weina HOU
;
Kun HE
Author Information
1. 郑州大学附属儿童医院 河南省儿童医院 郑州儿童医院 河南省儿童遗传代谢性疾病重点实验室 河南省儿童神经发育工程研究中心，郑州 450066
- Keywords:
Cantú syndrome;
ABCC9 gene;
Whole exome sequencing;
Atrial septal defect;
Child
- From:
Chinese Journal of Medical Genetics
2024;41(10):1249-1254
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical characteristics and pathogenic variant in a child with Cantú syndrome (CS).Methods: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 Medical Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2023-K-087).Results: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). Conclusion:The heterozygous c. 2438G>C variant of the ABCC9 gene probably underlay the pathogenesis of CS in this child.
