Royal College of Surgeons in Ireland
Browse

Similarity of phenotype in three male patients with the c.320A>G variant in ALG13: possible genotype-phenotype correlation

Download (243.68 kB)
journal contribution
posted on 2025-01-28, 13:37 authored by Rebecca Finnegan, Mary O'Regan, Maire WhiteMaire White, Gianpiero CavalleriGianpiero Cavalleri, Norman DelantyNorman Delanty, Katherine Benson, Marie GreallyMarie Greally

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

FutureNeuro

Science Foundation Ireland

Find out more...

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 2024

PubMed ID

39311797

Department/Unit

  • Beaumont Hospital
  • FutureNeuro Centre
  • School of Pharmacy and Biomolecular Sciences

Research Area

  • Neurological and Psychiatric Disorders

Publisher

John Wiley & Sons

Version

  • Published Version (Version of Record)