[Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(3): 316-320, 2022 Mar 10.
Article
em Zh
| MEDLINE
| ID: mdl-35315044
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
/
Deficiência Intelectual
Idioma:
Zh
Ano de publicação:
2022
Tipo de documento:
Article