Abstract
Dysequilibrium syndrome (DES) is a non-progressive congenital ataxia characterized by severe intellectual deficit, truncal ataxia and markedly delayed, quadrupedal or absent ambulation. Recessive loss-of-function mutations in the very low density lipoprotein receptor (VLDLR) gene represent the most common cause of DES. Only two families have been reported harbouring homozygous missense mutations, both with a similarly severe phenotype. We report an Italian girl with very mild DES caused by the novel homozygous VLDLR missense mutation p.(C419Y). This unusually benign phenotype possibly relates to a less disruptive effect of the mutation, falling within a domain (EGF-B) not predicted as crucial for the protein function.
Original language | English |
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Pages (from-to) | 191-195 |
Number of pages | 5 |
Journal | Neurogenetics |
Volume | 17 |
Issue number | 3 |
DOIs | |
Publication status | Published - Jul 1 2016 |
Keywords
- Dysequilibrium syndrome
- Next-generation sequencing
- Non-progressive cerebellar ataxia
- Pontocerebellar hypoplasia
- VLDLR
ASJC Scopus subject areas
- Genetics(clinical)
- Cellular and Molecular Neuroscience
- Genetics