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
en Zh
| WPRIM
| ID: wpr-928410
Biblioteca responsable:
WPRO
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
Banco de datos:
WPRIM
Asunto principal:
Familia
/
Pruebas Genéticas
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Heterocigoto
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Discapacidad Intelectual
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Child
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Female
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Humans
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Infant
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Article