Clinical features and genetic analysis of a child with Christianson syndrome due to variant of SLC9A6 gene
10.3760/cma.j.cn511374-20240919-00499
- VernacularTitle:SLC9A6基因变异致Christianson综合征1例患儿的临床特征及遗传学分析
- Author:
Xiaoyi PENG
1
;
Dandan SONG
;
Yao WANG
;
Aojie CAI
;
Tamang SAPANA
;
Huaili WANG
;
Zhihong ZHUO
Author Information
1. 郑州大学第一附属医院儿科，郑州 450052
- Publication Type:Journal Article
- Keywords:
SLC9A6 gene;
Christianson syndrome;
Whole exome sequencing
- From:
Chinese Journal of Medical Genetics
2025;42(4):411-418
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical characteristics and genetic etiology of a child with Christianson syndrome (CS).Methods:A 1-year-and-5-month-old boy with CS diagnosed at the First Affiliated Hospital of Zhengzhou University in April 2021 was selected as the study subject. Clinical data were retrospectively analyzed. Peripheral blood samples were obtained from the child and his parents, followed by genomic DNA extraction and whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No. 2024-KY-1103-001).Results:The child has manifested with seizures, microcephaly, and global developmental delay. WES revealed that he has harbored a novel de novo hemizygous nonsense variant of the SLC9A6 gene, namely c. 1014G>A (p.W338*). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic. Conclusion:The hemizygous c. 1014G>A nonsense variant of the SLC9A6 gene probably underlay the pathogenesis in this child. Above discovery has expanded mutational spectrum of the SLC9A6 gene and enabled definite diagnosis of the child.
