Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.
Mol Genet Genomic Med
; 12(9): e70010, 2024 Sep.
Article
em En
| MEDLINE
| ID: mdl-39311797
ABSTRACT
BACKGROUND:
Congenital disorders of glycosylation (CDG) are a group of neurometabolic diseases that result from genetic defects in the glycosylation of proteins and/or lipids. Multiple pathogenic genes contribute to the varying reported phenotypes of individuals with CDG-1 syndromes, most of which are inherited as autosomal recessive traits, although X-linked inheritance has also been reported. Pathogenic variants in the asparagine-linked glycosylation 13 homolog (ALG13) gene have been implicated in the aetiology of developmental and epileptic encephalopathy (DEE) 36 (OMIM*300776, DEE36). The NM_001099922.3c.320A>G; p.(Asn107Ser) variant is the most frequently described pathogenic variant in ALG13, with 59 females and 2 males with this variant reported to date.METHODS:
We report on a male with a de novo, hemizygous variant in ALG13 c.320A>G; p.(Asn107Ser), whose phenotype resembles that of two previously reported males with the same variant.RESULTS:
All three males have a de novo mutation, infantile spasms, DEE, drug-resistant epilepsy, intellectual disability, dysmorphic findings, recurrent infections, skeletal anomalies, brain abnormalities and a movement disorder a phenotype not consistently reported in males with other pathogenic variants in ALG13.CONCLUSION:
The similarity of phenotype in the three males with the c.320A>G variant in ALG13, suggests a possible genotype-phenotype correlation.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
Limite:
Child
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Child, preschool
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Humans
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Infant
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Male
Idioma:
En
Revista:
Mol Genet Genomic Med
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Irlanda