A5077276375- Muscle Physiology and Disorders
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Hereditary Neurological Disorders
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Cardiomyopathy and Myosin Studies
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Neurological diseases and metabolism
- Cellular transport and secretion
- ATP Synthase and ATPases Research
- Biochemical and Molecular Research
- Congenital heart defects research
- Genomics and Phylogenetic Studies
- Cancer-related molecular mechanisms research
- Calpain Protease Function and Regulation
- Ion channel regulation and function
- Neurogenetic and Muscular Disorders Research
- Genetic factors in colorectal cancer
- Cytomegalovirus and herpesvirus research
- Trace Elements in Health
- Prion Diseases and Protein Misfolding
University of Tartu
2014-2024
Tartu University Hospital
2015-2024
The CACNA1A gene encodes the transmembrane pore‐forming alpha‐1A subunit of Ca v 2.1 P/Q‐type voltage‐gated calcium channel. Several heterozygous mutations within this gene, including nonsense mutations, missense and expansion cytosine‐adenine‐guanine repeats, are known to cause three allelic autosomal dominant conditions—episodic ataxia type 2, familial hemiplegic migraine 1, spinocerebellar 6. An association with epilepsy has also been described. However, link epileptic encephalopathies...
Reaching a genetic diagnosis of mitochondrial disorders (MDs) is challenging due to their broad phenotypic and genotypic heterogeneity. However, there growing evidence that the use whole exome sequencing (WES) for diagnosing patients with clinical suspicion an MD effective (39-60%). We aimed study effectiveness WES in practice Estonia, unsolved, but suspected MD. also show our first results mtDNA analysis obtained from standard reads.
Dystonia is a debilitating hyperkinetic movement disorder, which can be transmitted as monogenic trait. Here, we describe homozygous frameshift, nonsense, and missense variants in TSPOAP1, encodes the active-zone RIM-binding protein 1 (RIMBP1), genetic cause of autosomal recessive dystonia 7 subjects from 3 unrelated families. Subjects carrying loss-of-function presented with juvenile-onset progressive generalized dystonia, associated intellectual disability cerebellar atrophy. Conversely,...
Variants in the SPATA5 gene were recently described a cohort of patients with global developmental delay, sensorineural hearing loss, seizures, cortical visual impairment and microcephaly. protein localizes predominantly mitochondria is proposed to be involved mitochondrial function brain processes. However no functional studies have been performed. This study describes five psychomotor microcephaly, epilepsy impairment, who thought clinically disease subsequent whole-exome sequencing...
(The American Journal of Human Genetics 99, 860–876; October 6, 2016) In the originally published version this article, Cristina Dallabona’s first name was unfortunately misspelled. It appears correctly here and online. The authors regret error. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease Loss DNA Copy NumberThompson et al.The GeneticsSeptember 29, 2016In BriefMutations encoding mitochondrial ADP/ATP carrier AAC1 are well-recognized causes...
The PRPS1 gene, located on Xq22.3, encodes phosphoribosyl-pyrophosphate synthetase (PRPS), a key enzyme in de novo purine synthesis. Three clinical phenotypes are associated with loss-of-function variants and decreased PRPS activity: Arts syndrome (OMIM: 301835), Charcot-Marie-Tooth disease type 5 (CMTX5, OMIM: 311070), nonsyndromic X-linked deafness (DFN2, 304500). Hearing loss is present all cases. CMTX5 patients also show peripheral neuropathy optic atrophy. includes developmental delay,...
The investigated intronic CAPN3 variant NM_000070.3:c.1746-20C>G occurs in the Central and Eastern Europe with a frequency of >1% there are conflicting interpretations on its pathogenicity. We collected data 14 patients carrying c.1746-20C>G trans position another pathogenic/likely pathogenic variant. compound heterozygous for presented phenotype consistent calpainopathy mild/medium severity. This is most frequent North/West regions Russia may originate from that area. Molecular studies...
Tibial muscular dystrophy (TMD) is an autosomal dominant, slowly progressive late-onset distal myopathy. TMD was first described in 1991 by Udd et al. Finnish patients, who were later found to harbor a heterozygous unique 11-bp insertion/deletion the last exon of TTN gene-the founder variant (FINmaj). In homozygous state or compound heterozygosity with truncating variant, FINmaj causes early-onset recessive titin-related limb-girdle type 10 (LGMD R10). So far, has not been detected outside...
ABSTRACT Dystonia is a debilitating hyperkinetic movement disorder, frequently transmitted as monogenic trait. Here, we describe homozygous frameshift, nonsense and missense variants in TSPOAP1 , encoding the active zone RIM-binding protein 1 (RIMBP1), novel genetic cause of autosomal recessive dystonia seven subjects from three unrelated families. Subjects carrying loss-of-function presented with juvenile- onset progressive generalized dystonia, associated intellectual disability cerebellar...