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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Syndrome
/
Genetic Testing
/
Creatine
/
Epilepsy
/
Plasma Membrane Neurotransmitter Transport Proteins
/
Genetics
/
Mutation
/
Nerve Tissue Proteins
Type of study:
Prognostic study
Limits:
Child
/
Child, preschool
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2020
Type:
Article
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