Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement

Conclusion
Our findings show that pathogenic variants in MAN2A2 cause a novel autosomal recessive CDG with neurological involvement and facial dysmorphism. Here, we also present the development of a cell-based complementation assay to assess the pathogenicity of MAN2A2 variants, which can also be extended to MAN2A1 variants for future diagnosis.

Source: Journal of Medical Genetics - June 21, 2023 Category: Genetics & Stem Cells Authors: Mahajan, S., Ng, B. G., AlAbdi, L., Earnest, P. D. J., Sosicka, P., Patel, N., Helaby, R., Abdulwahab, F., He, M., Alkuraya, F. S., Freeze, H. H. Tags: Genotype-phenotype correlations Source Type: research