Clinical and genetic analysis of a case with Thiamine metabolism dysfunction syndrome 5 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 873-876, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-921959
ABSTRACT
OBJECTIVE@#To report the clinical manifestation and genetic characteristics of a child with Thiamine metabolism dysfunction syndrome 5.@*METHODS@#Clinical data and genetic results were collected and analyzed. Peripheral blood samples of the child and their parents were collected for whole exome sequencing, and the functional effect of the variants on the TPK1 enzyme activity was verified by an in vitro assay.@*RESULTS@#A four-year-old boy presented with preschool onset of ataxia were characterized. High-throughput sequencing identified a novel homozygous variant of TPK1 gene c.382G>A (p.Leu128Phe). His father and mother were both found carrying the variant. The variant protein showed a 30.9% reduction in TPK1 enzyme activity compared with the wildtype.@*CONCLUSION@#A novel pathogenic variant has been identified in a boy with thiamine metabolic dysfunction syndrome type 5.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Tiamina
/
Testes Genéticos
/
Sequenciamento do Exoma
/
Homozigoto
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Criança, pré-escolar
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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