Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families
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Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by lower-limb spasticity, hyperreflexia, progressive spastic gait abnormalities, and an extensor-plantar response. It is genetically very heterogeneous, with 28 Human Genome Organisation (HUGO)-approved IDs in the database (last search: August 8, 2004). Following the identification of the SPG6 gene, NIPA1, we have identified two novel mutations, c.316G>C and c.316G>A, in two independent Chinese families linked to the SPG6 locus. These two mutations would cause a p.G106R substitution, and cosegregated with the disease. Structural predictions suggest that p.G106 is located in the third transmembrane domain of the protein, and that the mutant p.G106R disrupts this structure, causing the intramembrane loop to descend into the cytoplasm. Our results identify two novel mutations responsible for HSP and suggest that c.316 of theNIPA1 gene may be a mutational hotspot.
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NIPA1 is associated with autosomal dominant hereditary spastic paraplegia.
“NIPA1 or non-imprinted in Prader-Willi/Angelman syndrome 1 gene is the best studied gene within this region and associated with autosomal dominant hereditary spastic paraplegia [20,21].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [20]
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Parra-Párraga, D. J., & Espinosa, E. (2022) · Case reports · doi:10.15446/cr.v8n1.90865
Fink, J. K. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-99417-0.00008-2
The hereditary spastic paraplegias
Fink, J. K. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19176-3.00037-6
- Authors
- Chen, S., Song, C., Guo, H., Xu, P., Huang, W., Zhou, Y., Sun, J., Li, C., Du, Y., Li, X., Liu, Z., Geng, D., Maxwell, P. H., Zhang, C., & Wang, Y.
- Affiliations
- Sun Yat-sen University (CN)
- Harbin Medical University (CN)
- Zhejiang University (CN)
- Fudan University (CN)
- Department of Medical Statistics, Zhongshan Medical College, Sun Yat‐Sen University, Guangzhou, PR China
- Affiliated Hospital of Xuzhou Medical College (CN)
- Hammersmith Hospital (GB)
- Corresponding author
- Wang, Yiming
- ORCID
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2005-01-10
- Volume
- 25
- Issue
- 2
- Pages
- 135-141
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2079142805
- Cited by
- 61
- References
- 34
- Citations by year
- 2024: 2 · 2023: 4 · 2022: 3 · 2021: 5 · 2020: 3 · 2019: 3 · 2018: 1 · 2017: 2 · 2016: 1 · 2015: 1 · 2014: 5 · 2013: 4 · 2012: 2
- FWCI
- 2.54
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Chinese 863 HiTech Project (2001AA221102)
- Guangdong Provincial Natural Science Foundation (031673)
- China Medical Board of New York (01-759)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Keywords
- hereditary spastic paraplegia, NIPA1, novel mutations, mutational hotspots, autosomal dominant inheritance, co-segregation, transmembrane domain, protein structure prediction, Chinese family
- MeSH terms
- Adult, Aged, Amino Acid Sequence, China, DNA Mutational Analysis, Female, Guanine, Humans, Lod Score, Male, Membrane Proteins, Middle Aged, Molecular Sequence Data, Pedigree, Spastic Paraplegia, Hereditary, Point Mutation, Sequence Homology
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