Zhu-Tokita-Takenouchi-Kim syndrome in a neonate.
10.7499/j.issn.1008-8830.2409076
- Author:
Wei-Na LIU
1
;
Ya-Lei PI
;
Xing-Yu BAI
1
;
Hui-Fen CHEN
1
Author Information
1. Department of Neonatology, Fourth Hospital of Shijiazhuang, Shijiazhuang 050000, China.
- Publication Type:English Abstract
- Keywords:
Genetic variation;
Neonate;
SON gene;
Zhu-Tokita-Takenouchi-Kim syndrome
- MeSH:
Humans;
Infant, Newborn;
Male;
Minor Histocompatibility Antigens/genetics*;
DNA-Binding Proteins/genetics*;
Rare Diseases/genetics*;
Neurodevelopmental Disorders/genetics*
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(3):373-376
- CountryChina
- Language:Chinese
-
Abstract:
The patient is a male neonate born at term. He was admitted 16 minutes after birth due to stridor and inspiratory respiratory distress. Physical examination revealed a cleft palate, and a grade II systolic ejection murmur was audible at the left sternal border. Whole exome sequencing identified a heterozygous variant in the SON gene, c.5753-5756del (p.Val1918GlufsTer87), which was absent in either parent, indicating a de novo mutation. According to the guidelines of the American College of Medical Genetics and Genomics, this was classified as a "pathogenic variant" leading to a diagnosis of Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome. Upon admission, symptomatic supportive treatment was provided. Follow-up at the age of 8 months revealed persistent stridor; the infant could only consume small amounts of milk and was unable to sit steadily. This patient represents the youngest reported case to date, and his symptoms expand the clinical spectrum of the disease, providing valuable insights for clinical diagnosis and treatment.
