ALG11-CDG: novel variant and review of the literature
| Autor: | Ayşenur Engin Erdal, Ahmet Cevdet Ceylan, Kıvılcım Gücüyener, Rıdvan Murat Öktem, Oya Kıreker Köylü, Çiğdem Seher Kasapkara |
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| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Journal of Pediatric Endocrinology and Metabolism. |
| ISSN: | 2191-0251 0334-018X 2022-0480 |
| DOI: | 10.1515/jpem-2022-0480 |
| Popis: | Objectives 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. Case presentation 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. |
| Databáze: | OpenAIRE |
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