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A novel FBXO7-R345P mutation in a Chinese family with autosomal recessive parkinsonian-pyramidal syndrome.
- Source :
-
Parkinsonism & Related Disorders . Jul2021, Vol. 88, p62-67. 6p. - Publication Year :
- 2021
-
Abstract
- <bold>Background: </bold>Mutations in the F-box protein 7 (FBXO7) gene is one of the genetic causes of early-onset Parkinson's disease, which usually presents as autosomal recessive early-onset parkinsonian-pyramidal syndrome (PPS). Herein, we report a Chinese PPS family with a novel FBXO7 homozygous mutation.<bold>Methods: </bold>Clinical data of the proband and his affected sister manifesting as early-onset parkinsonism combined with pyramidal signs were collected. DNAs of the two affected siblings, an unaffected sibling and their unaffected mother were isolated. Whole-exome sequencing (WES) was performed for the proband. After bioinformatic analysis, targeted variants were validated by Sanger sequencing in the family members available for DNAs.<bold>Results: </bold>The proband began to walk unsteadily at 30-year-old and developed mild parkinsonism and stiffness in both lower extremities 4 years later. His older sister also manifested as early-onset parkinsonism with stiffness in both lower limbs and postural instability. Both the proband and his older sister carried a novel homozygous FBXO7 mutation in exon 7 (c.1034G > C, p. R345P). The homozygous mutation co-segregated with disease in this pedigree. The mutation located at a highly conserved amino acid residue in the F-box domain, which was predicted to be damaging in silico.<bold>Conclusions: </bold>Our study expands the mutational spectrum of autosomal recessive early-onset Parkinson's disease (PARK15) caused by FBXO7 mutations. [ABSTRACT FROM AUTHOR]
- Subjects :
- *PARKINSON'S disease
*MULTIPLE system atrophy
*AMINO acid residues
*SYNDROMES
*FAMILIES
*PARKINSONIAN disorders
*RESEARCH
*BLEPHAROSPASM
*GENETIC mutation
*BASAL ganglia
*RESEARCH methodology
*EVALUATION research
*COMPARATIVE studies
*AGE factors in disease
*GENETIC techniques
*CARRIER proteins
*GENEALOGY
Subjects
Details
- Language :
- English
- ISSN :
- 13538020
- Volume :
- 88
- Database :
- Academic Search Index
- Journal :
- Parkinsonism & Related Disorders
- Publication Type :
- Academic Journal
- Accession number :
- 151216886
- Full Text :
- https://doi.org/10.1016/j.parkreldis.2021.06.005