HomozygousEXOSC3Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma
Abstract
Pontocerebellar hypoplasia type 1 (PCH1) is characterized by cerebellar and anterior horn motor neuron degeneration and loss, signs of spinal muscular atrophy plus. Patients manifest severe perinatal weakness, hypotonia, and respiratory insufficiency, causing death frequently before the age of 1 year. Recently, causative mutations in EXOSC3 were reported in a majority of PCH1 patients, but the detailed clinical phenotype caused by EXOSC3 mutations, genotype-phenotype correlations, and prevalent mutations in specific ethnic groups is not yet known. Three unrelated Czech Roma patients with PCH1 were investigated clinically, electrophysiologically, neuroradiologically, and neuropathologically (patients 1 and 2). The entire coding region of the EXOSC3 gene, including the adjacent intron sequences, was sequenced in all three patients. The same mutation c.92G→C, p.G31A in EXOSC3 was found in all three affected patients in homozygous state and in heterozygous state in the parents from two of the families. Haplotype analysis with four flanking microsatellite markers showed identical haplotype in 9 out of 11 haplotypes carrying the c.92G→C, p.G31A mutation. Furthermore, four heterozygotes for this mutation were found in anonymous DNA samples from 90 unrelated Roma individuals. All four of these samples shared the same haplotype. No heterozygous sample was found among 120 anonymous DNA samples from Czech non-Roma individuals with no familial relation. It may therefore be concluded that…
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Patients harboring EXOSC3 p.G31A present with absent tendon reflexes, significant neurogenic muscle atrophy, and survival typically limited to the first six months of life.
“patients harboring the EXOSC3 p.Gly31Ala (p.G31A) variant present with absent tendon reflexes, significant neurogenic muscle atrophy, and survival typically limited to the first six months of life25,36.”
From EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery (2026) · cites this paper as [36]
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References 19 · Cited by 44
- Authors
- Schwabova, J., Brozkova, D. S., Petrak, B., Mojzisova, M., Pavlickova, K., Haberlova, J., Mrazkova, L., Hedvicakova, P., Hornofova, L., Kaluzova, M., Fencl, F., Krutova, M., Zamecnik, J., & Seeman, P.
- Affiliations
- Charles University (CZ)
- Venue
- Journal of Neurogenetics
- Publisher
- Informa UK Limited
- Published
- 2013-07-25
- Volume
- 27
- Issue
- 4
- Pages
- 163-169
- ISSN
- 0167-7063 (ISSN-L)
- 1563-5260
- OpenAlex
- W1977836268
- Cited by
- 44
- References
- 19
- Citations by year
- 2026: 2 · 2025: 3 · 2022: 2 · 2021: 1 · 2020: 9 · 2019: 5 · 2018: 5 · 2017: 6 · 2016: 3 · 2015: 2 · 2014: 5 · 2013: 1
- FWCI
- 3.41
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Neurogenetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- EXOSC3, founder mutation, Czech Roma, autosomal recessive disorder, genotype-phenotype correlation, haplotype analysis, cerebellar hypoplasia, heterozygous carriers
- MeSH terms
- Female, Romani People, Haplotypes, Homozygote, Humans, Infant, Infant, Newborn, Male, Mutation, Olivopontocerebellar Atrophies, Phenotype, RNA-Binding Proteins, Czech Republic, Reverse Transcriptase Polymerase Chain Reaction, Exosome Multienzyme Ribonuclease Complex
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