Similarity of phenotype in three male patients with the c.320A>G variant in ALG13: possible genotype-phenotype correlation
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_001099922.3:c.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.
Funding
European Regional Development Fund
FutureNeuro industry partners
Open access funding provided by IReL
History
Data Availability Statement
The data that support the findings of this study are available from the corresponding author upon reasonable request.Comments
The original article is available at https://onlinelibrary.wiley.com/Published Citation
Finnegan R, et al. Similarity of phenotype in three male patients with the c.320A>G variant in ALG13: possible genotype-phenotype correlation. Mol Genet Genomic Med. 2024;12(9):e70010.Publication Date
23 September 2024External DOI
PubMed ID
39311797Department/Unit
- Beaumont Hospital
- FutureNeuro Centre
- School of Pharmacy and Biomolecular Sciences
Research Area
- Neurological and Psychiatric Disorders
Publisher
John Wiley & SonsVersion
- Published Version (Version of Record)