Expanding the Genotypic Spectrum of SLC18A2 Mutation-Related Disorder-A Novel Mutation and Review of Literature.
Sophia Brewer, Praveen Kumar Ramani, Kapil Arya
✦ AI-curated · Sources linked
Case in brief
A 5-month-old male from a consanguineous family presented with severe hypotonia, oculogyric crises, and developmental delay. Genetic testing identified a homozygous SLC18A2 frameshift variant, Chr10:119014792dupC (p.Phe238LeufsTer7), in a gene encoding vesicular monoamine transporter 2. The authors diagnosed brain monoamine vesicular transporter deficiency, an autosomal recessive neurometabolic disorder. The report compares the presentation with overlapping neurometabolic disorders and previously described SLC18A2-related cases; the abstract does not describe a clinical resolution.
What made this case unusual
The case adds a novel homozygous frameshift variant, p.Phe238LeufsTer7, to the reported genotypic spectrum of SLC18A2-related disease.
Diagnostic / clinical pearl
In an infant with unexplained movement disorder alongside hypotonia and developmental delay, consider genetic testing for SLC18A2-related disease, particularly when clinical features overlap with other neurometabolic disorders.