Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.
Pediatr Neurol
; 148: 133-137, 2023 11.
Article
em En
| MEDLINE
| ID: mdl-37713976
ABSTRACT
BACKGROUND:
Biallelic pathogenic variants in SLC17A5 cause three forms of free sialic acid storage disease categorized based on severity from least to most severe Salla disease, intermediate-severe Salla disease, and infantile free sialic acid storage disease. Intermediate-severe Salla disease is the most recently described form. Here, we report a longitudinal characterization of intermediate-severe Salla disease progression in two sisters carrying the following biallelic variants in SLC17A5 c.406A>G (p.Lys136Glu) and c.819+1G>A.METHODS:
A retrospective review of medical records was performed. A developmental questionnaire was completed to obtain further clinical information. For functional characterization of the predicted splice site variant, RNA was extracted from patient blood samples and sequenced.RESULTS:
Disease onset occurred within the first six months of life in both patients. Early childhood development was delayed with achievement of some milestones followed by a developmental plateau in late childhood. After this, both patients began a slow and progressive neurological regression in adolescence. Functional studies confirmed the pathogenicity of the c.819+1G>A variant, resulting in a frameshift and deletion of exon 6.CONCLUSIONS:
We present a detailed study describing the clinical course of intermediate-severe Salla disease with over 15 to 20 years of evolution and demonstrate the pathogenicity of the c.819+1G>A splice site variant.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença do Armazenamento de Ácido Siálico
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Child
/
Child, preschool
/
Humans
Idioma:
En
Revista:
Pediatr Neurol
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Canadá