Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 482-487, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-828718
ABSTRACT
This article reports the clinical and genetic features of two cases of cerebral creatine deficiency syndrome I (CCDSI) caused by SLC6A8 gene mutations. Both children were boys. Boy 1 (aged 2 years and 10 months) and Boy 2 (aged 8 years and 11 months) had the clinical manifestations of delayed mental and motor development, and convulsion. Their older brothers had the same symptoms. The mother of the boy 1 had mild intellectual disability. The genetic analysis showed two novel homozygous mutations, c.200G>A(p.Gly67Asp) and c.626_627delCT(p.Pro209Argfs*87), in the SLC6A8 gene on the X chromosome, both of which came from their mothers. These two novel mutations were rated as possible pathogenic mutations and were not reported in the literature before. This study expands the mutation spectrum of the SLC6A8 gene and has great significance in the diagnosis of boys with delayed development, and epilepsy.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome
/
Testes Genéticos
/
Creatina
/
Epilepsia
/
Proteínas da Membrana Plasmática de Transporte de Neurotransmissores
/
Genética
/
Mutação
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
/
Criança, pré-escolar
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2020
Tipo de documento:
Artigo
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