Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson's disease.

ABSTRACT:

Background

Mutations in the F-box protein 7 (FBXO7) gene result in autosomal recessive parkinsonism. This usually manifests as early-onset parkinsonian-pyramidal syndrome but patients exhibit high phenotypic variability. Here we describe the findings of a Yemeni family with two novel FBXO7 mutations.

Methods

Clinical data and DNA were available for three siblings with early-onset parkinsonism together with their parents and three unaffected siblings. A targeted next generation sequencing panel was used to screen the proband for mutations in 14 genes known to cause a parkinsonian disorder. In addition, SNCA, PARK2, PINK1, and PARK7 were screened for copy number variants.

Results

The proband carried two novel compound heterozygous FBXO7 mutations: a missense mutation in

SUBMITTER: Lorenzo-Betancor O 

PROVIDER: S-EPMC8110511 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature