SLC35A2-CDG: novel variants with two ends of the spectrum
Author:
Kasapkara Çiğdem Seher1, Ceylan Ahmet Cevdet2, Özyürek Hamit3, Karakaya Molla Gülhan4, Civelek Ürey Burcu4, Kıreker Köylü Oya4ORCID, Küçükçongar Yavaş Aynur4, Sönmez Fatma Müjgan5
Affiliation:
1. Department of Pediatric Metabolism , Ankara City Hospital, Ankara Yıldırım Beyazıt University , Ankara , Turkey 2. Department of Medical Genetics , Ankara City Hospital, Ankara Yıldırım Beyazıt University , Ankara , Turkey 3. Department of Pediatric Neurology , Ankara City Hospital , Ankara , Turkey 4. Department of Pediatric Metabolism , Ankara City Hospital , Ankara , Turkey 5. Department of Pediatric Neurology , Ankara , Turkey
Abstract
Abstract
Objectives
Congenital disorders of glycosylation (CDGs) are rare inherited metabolic disorders associated with facial dysmorphism and in the majority of the patients, there is an important neurological impairment. Epilepsy was a main concern in rare forms of the disease. There are two groups of the disease: CDG-I results from the defects in glycan addition to the N-terminal and CDG-II occurs due to defects in the processing of protein bound glycans. SLC35A2-CDG is a rare form of CDG caused by mutations in the X-linked gene that encodes a UDP-Galactose transporter. The manifestations of the disease include seizures, failure to thrive, delayed myelination, and cerebral atrophy.
Case presentation
We describe herein a severe female child with intractable seizures, microcephaly, growth retardation, hypotonia, global developmental delay, facial dysmorphism, skeletal findings, cerebral/cerebellar atrophy, and thin corpus callosum, and a mildly affected male carrying a novel variant with seizures and mild global developmental delay who were found by whole exome sequencing (WES) for SLC35A2 mutations previously not reported.
Conclusions
Our findings expand the number of reported cases and add novel variants to the repertoire of SLC35A2-CDG.
Publisher
Walter de Gruyter GmbH
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Reference8 articles.
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