期刊
PARKINSONISM & RELATED DISORDERS
卷 88, 期 -, 页码 62-67出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2021.06.005
关键词
Autosomal recessive early-onset Parkinson's disease; PARK15; Chinese; Mutation; FBXO7; Whole-exome sequencing
资金
- Ministry of Science and Technology [2016YFC1306000]
- Key laboratory of Neurodegenerative Diseases, Ministry of Education of China [PXM2019_026283_000002]
- National Natural Science Foundation [81771212]
- Beijing Municipal Science & Technology Commission, China (Brain Science Projects) [Z161100000216140]
This study reported a Chinese PPS family with a novel FBXO7 homozygous mutation, expanding the mutational spectrum of early-onset Parkinson's disease caused by FBXO7 mutations.
Background: 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. Methods: 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. Results: 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. Conclusions: Our study expands the mutational spectrum of autosomal recessive early-onset Parkinson's disease (PARK15) caused by FBXO7 mutations.
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