Journal of pediatric endocrinology & metabolism : JPEM · 2021
SLC35A2-CDG: novel variants with two ends of the spectrum.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Kasapkara Çiğdem Seher, Ceylan Ahmet Cevdet, Özyürek Hamit, Karakaya Molla Gülhan, Civelek Ürey Burcu, Kıreker Köylü Oya, Küçükçongar Yavaş Aynur, Sönmez Fatma Müjgan
Аннотация
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.
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.