Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 316-320, 2022.
Article
in Chinese
| WPRIM
| ID: wpr-928410
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Family
/
Genetic Testing
/
Heterozygote
/
Intellectual Disability
/
Mutation
Type of study:
Prognostic study
Limits:
Child
/
Female
/
Humans
/
Infant
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article
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