{Reference Type}: Review {Title}: ALG11-CDG: novel variant and review of the literature. {Author}: Erdal AE;Ceylan AC;Gücüyener K;Öktem RM;Kıreker Köylü O;Kasapkara ÇS; {Journal}: J Pediatr Endocrinol Metab {Volume}: 36 {Issue}: 4 {Year}: Apr 2023 25 {Factor}: 1.52 {DOI}: 10.1515/jpem-2022-0480 {Abstract}: OBJECTIVE: Asparagine-dependent glycosylation 11-congenital disorders of glycosylation (ALG11-CDG) is a rare autosomal recessive N-glycosylation defect with multisystem involvement particularly neurological symptoms such as epilepsy and neuromotor developmental delay.
METHODS: A 31-month-old male patient admitted to our center with complaints of axial hypotonia, drug-resistant myoclonic seizures, microcephaly and deafness. The electroencephalography (EEG) showed a burst-suppression pattern without hypsarrhythmia. Basal metabolic investigations were unremarkable. Progressive cerebral atrophy, hypomyelination and corpus callosum hypoplasia were striking features in brain MRI images taken during our follow-up. Compound heterozygous mutations of the ALG11 gene were found by whole exome sequencing (WES) analysis. It was determined that the c.476T>C mutation is a novel mutation. CDG type 1 pattern was detected with the examination of carbohydrate-deficient transferrin (CDT) by capillary zone electrophoresis.
CONCLUSIONS: In patients with a possible congenital defect of glycosylation, a screening test such as CDT analysis is suggested. To discover novel mutations in this rare disease group, expanded genetic analysis should be performed.