SRD5A3-CDG: A Patient with a Novel Variant and Brain Neoplasm

Congenital disorders of glycosylation (CDGs) are a large group of genetic diseases with impaired glycosylation of glycoproteins and glycolipids, and glycosylphosphatidylinositol anchor synthesis. Steroid 5α-reductase 3 (SRD5A3)-CDG is a CDG type I with a clinical spectrum of neurological, ophthalmological, dermatological and hepatic symptoms. Although CDGs are not directly related to malignancies, it is well known that some genes that are involved in glycosylation pathways are involved in various cancers. Aberrant glycosylation has been closely linked to the development and progression of brain cancer. We report a patient with SRD5A3-CDG carrying a novel homozygous splice variant and brain neoplasm. Also, a review of the literature is made regarding the multisystem effects of the disease.