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.
Artigo
em Chinês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Família
/
Testes Genéticos
/
Heterozigoto
/
Deficiência Intelectual
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
/
Feminino
/
Humanos
/
Lactente
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS