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TMEM151A variants associated with paroxysmal kinesigenic dyskinesia
Open accessPublished version of a preprint
Abstract
TMEM151A, located at 11q13.2 and encoding transmembrane protein 151A, was recently reported as causative for autosomal dominant paroxysmal kinesigenic dyskinesia (PKD). Here, through comprehensive analysis of sporadic and familial cases, we expand the clinical and mutation spectrum of PKD. In doing so, we clarify the clinical and genetic features of Chinese PKD patients harboring TMEM151A variants and further explore the relationship between TMEM151A mutations and PKD. Whole exome sequencing was performed on 26 sporadic PKD patients and nine familial PKD pedigrees without PRRT2 variants. Quantitative real-time PCR was used to assess the gene expression of frameshift mutant TMEM151A in a PKD patient. TMEM151A variants reported to date were reviewed. Four TMEM151A variants were detected in four unrelated families with 12 individuals, including a frameshift mutation [c.606_607insA (p.Val203fs)], two missense mutations [c.166G > A (p.Gly56Arg) and c.791T > C (p.Val264Ala)], and a non-pathogenic variant [c.994G > A (p.Gly332Arg)]. The monoallelic frameshift mutation [c.606_607insA (p.Val203fs)] may cause TMEM151A mRNA decay, suggesting a potential pathogenic mechanism of haploinsufficiency. Patients with TMEM151A variants had short-duration attacks and presented with dystonia. Our study provides a detailed clinical description of PKD patients with TMEM151A mutations and reports a new disease-causing mutation, expanding the known phenotypes caused by TMEM151A mutations and providing further detail about the pathoetiology of PKD.
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Metadata
- Authors
- Huang, H. L., Zhang, Q. X., Huang, F., Long, X. Y., Song, Z., Xiao, B., Li, G. L., Ma, C. Y., & Liu, D.
- Affiliations
- Central South University (CN)
- Corresponding author
- Liu, Ding
- Venue
- Human Genetics
- Published
- 2023-03-01
- Volume
- 142
- Issue
- 8
- Pages
- 1017-1028
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- OpenAlex
- W4322719725
- Cited by
- 8
- References
- 34
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 3 · 2023: 2
- FWCI
- 1.33
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Licence
- cc-by
- www.springernature.com/gp/researchers/text-and-data-mining (tdm)
- www.springernature.com/gp/researchers/text-and-data-mining (vor)
- Locations
- Human Genetics (publishedVersion)
- Research Square (acceptedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- National Natural Science Foundation of China (81801295, 81501248)
- the Wisdom Accumulation and Talent Cultivation Project of the Third xiangya hospital of Central South University (YX202205)
- Science and Technology Program of Hunan Province (2021RC3031)
- the Natural Foundation of Xinjiang Uygur Autonomous Region (2018D01C225)
- the Scientific Research Program of Hunan Provincial Health Commission (20220503347)
- the Open Research Program of Key Laboratory of Regenerative Biology of Chinese Academy of Sciences (KLRB202010)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Health Sciences › Medicine › Clinical Neurology › Neurological and metabolic disorders
- Keywords
- paroxysmal kinesigenic dyskinesia, frameshift mutation, missense mutations, haploinsufficiency, mRNA degradation, dystonia, mutation spectrum, Chinese patients
- MeSH terms
- Dystonia, Humans, Membrane Proteins, Mutation, Nerve Tissue Proteins
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