Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene.
10.3760/cma.j.cn511374-20210315-00225
- VernacularTitle:一例
SON基因杂合变异所致ZTTK综合征患儿的临床及遗传学分析
- Author:
Hongmei XIN
1
;
Jianshe ZHAO
;
Yuqiang LYU
;
Yanan YANG
;
Zilong LI
;
Zhongtao GAI
;
Yi LIU
Author Information
1. Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022 China. liuyi-ly@126.com.
- Publication Type:Journal Article
- MeSH:
Child;
Family;
Female;
Genetic Testing;
Heterozygote;
Humans;
Infant;
Intellectual Disability/genetics*;
Mutation
- From:
Chinese Journal of Medical Genetics
2022;39(3):316-320
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology of a small-for-date infant with gastrointestinal bleeding, developmental delay and thrombocytopenia (Zhu-Tokita-Takenouchi-Kim syndrome).
METHODS:Clinical and laboratory examinations were carried out for the patient. Next-generation sequencing (NGS) was used to detect potential variant associated with the disease. Candidate variant was verified by Sanger sequencing of the child and her parents.
RESULTS:NGS revealed that the child has carried a heterozygous c.5751_5754del variant of the SON gene, which resulted in a frameshift p.V1918Efs*87. The same variant was detected in neither parent.
CONCLUSION:The heterozygous variant of SON gene probably underlay the ZTTK syndrome in this child. Above finding has enriched the mutational spectrum of the SON gene and provides a basis for genetic counseling and clinical decision-making.
