Article
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.
International journal of molecular sciences - 18 Jan 2023
Pauly Martje G, Brüggemann Norbert, Efthymiou Stephanie, Grözinger Anne, Diaw Sokhna Haissatou, Chelban Viorica, Turchetti Valentina, Vona Barbara, Tadic Vera, Houlden Henry, Münchau Alexander, Lohmann Katja
Abstract excerpt
VPS13D is one of four human homologs of the vacuolar sorting protein 13 gene (VPS13). Biallelic pathogenic variants in the gene are associated with spastic ataxia or spastic paraplegia. Here, we report two patients with intronic pathogenic variants: one patient with early onset severe spastic ataxia and debilitating tremor, which is compound-heterozygous for a canonical (NM_018156.4: c.2237-1G > A) and a...
Topics
- Muscle Spasticity
- Spinocerebellar Ataxias
- Optic Atrophy
- Paraplegia
- Mutation
- Humans
- Intellectual Disability
- Tremor
- Spastic Paraplegia, Hereditary
- Proteins