A5068471275- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Epigenetics and DNA Methylation
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Genomics and Rare Diseases
- Congenital heart defects research
- Parvovirus B19 Infection Studies
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Genomics and Chromatin Dynamics
- Cancer-related gene regulation
- Circular RNAs in diseases
- ATP Synthase and ATPases Research
- Neurogenetic and Muscular Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Robotic Path Planning Algorithms
- Congenital Diaphragmatic Hernia Studies
- Blood disorders and treatments
- Cancer Genomics and Diagnostics
- Moyamoya disease diagnosis and treatment
- Gestational Diabetes Research and Management
- High Altitude and Hypoxia
- Genomics and Phylogenetic Studies
Oulu University Hospital
2013-2025
University of Oulu
1999-2025
NordLab
2015-2024
United Arab Emirates University
2011
Abstract While short-read sequencing currently dominates genetic research and diagnostics, it frequently falls short of capturing certain structural variants (SVs), which are often implicated in the etiology neurodevelopmental disorders (NDDs). Optical genome mapping (OGM) is an innovative technique capable SVs that undetectable or challenging-to-detect via methods. This study aimed to investigate NDDs using OGM, specifically focusing on cases remained unsolved after standard exome...
Abstract The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be interest to study (ID) and the contribution ARID. Here, we used a genotype-driven approach genetic landscape ID population Finland. A total 39 families with syndromic non-syndromic were analyzed using exome sequencing, which revealed variant known gene 27 families. Notably, 75% these variants genes de novo or suspected (64%...
Homozygous loss of DIAPH1 results in seizures, cortical blindness, and microcephaly syndrome (SCBMS). We studied 5 Finnish 2 Omani patients with presenting SCBMS, mitochondrial dysfunction, immunodeficiency.We sought to further characterize phenotypes disease mechanisms associated DIAPH1.Exome sequencing, genotyping haplotype analysis, B- T-cell phenotyping, vitro lymphocyte stimulation assays, analyses function, immunofluorescence staining for cytoskeletal proteins mitochondria, CRISPR-Cas9...
Leigh syndrome is the most common phenotype of mitochondrial disorders in children. This study demonstrates clinical, neuroradiological, and molecular genetic findings siblings with isolated complex I assembly defect associated intronic c.16 + 5G > A variant NDUFS7 gene. Whole exome sequencing was carried out to identify causative variant. The gene protein expression were studied using patient-derived fibroblasts. Assembly respiratory chain enzymes analyzed Blue Native PAGE. shows that...
We used positron emission tomography (PET) to study brain [11C]flumazenil (FMZ) binding in four Angelman syndrome (AS) patients. Patients 1 3 had a maternal deletion of 15q11-q13 leading the loss β3 subunit γ-aminobutyric acidA/benzodiazepine (GABAA/BZ) receptor, whereas Patient 4 mutation ubiquitin protein ligase (UBE3A) saving gene. [11C]FMZ potential frontal, parietal, hippocampal, and cerebellar regions was significantly lower than 4. propose that leads reduced number GABAA/BZ receptors,...
PurposeA new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, genome sequencing yielded three candidate genes potentially pathogenic biallelic variants: transketolase (TKT), transmembrane prolyl 4-hydroxylase (P4HTM), ubiquitin specific peptidase 4 (USP4). However, causative gene remained elusive.MethodsInternational collaboration exome were used...
We analyzed the frequency and possible causes of false-negative (Fn) screening results in first-trimester combined Down syndrome Finland. During study period (May 1, 2002, to December 31, 2008), 76,949 voluntary women with singleton pregnancies participated screening. Maternal age at screening, week gestation, levels pregnancy-associated plasma protein-A (PAPP-A), free β-human chorionic gonadotropin (fβ-hCG), nuchal translucency (NT) measurement were compared statistically between...
Abstract Angelman syndrome (AS) is a neurogenetic disorder associated with loss of maternal gene expression in chromosome region 15q11‐q13 due to either deletion, paternal uniparental disomy (UPD), imprinting mutation, or mutation the UBE3A gene. encodes an ubiquitin‐protein ligase and shows brain‐specific imprinting. We have done conformation sensitive gel electrophoresis (CSGE) analysis coding nine AS patients, who had shown normal biparental inheritance methylation pattern 15q11‐q13....
To examine the performance of first-trimester combined screening after adding specific algorithms for trisomies 18 and 13 in Down syndrome program chromosomal abnormalities other than trisomy 21 to determine outcomes such pregnancies.A retrospective study.Oulu University Hospital, Finland.Pregnant women (n=56 076) participating voluntarily Northern Eastern Finland during study period 1 June 2002 31 December 2008.The data all known cases were collected.Risk 21, used calculation...
Objective. To evaluate the performance of first-trimester combined screening in 5-year periods according to maternal age a low-risk population. Design. A prospective study. Setting: Multicenter study Finland. Population: total 76 949 voluntary women with singleton pregnancies participated public healthcare between 1 May 2002 and 31 December 2008. Methods. The serum samples were analyzed using PerkinElmer AutoDELFIA® time-resolved fluoroimmunoassay kit for measurement pregnancy-associated...
Mutations in GLE1 , RNA export mediator ( ) gene have previously been shown to cause motor neuron diseases such as lethal congenital contracture syndrome 1 LCCS1 and arthrogryposis with anterior horn cell disease LAAHD ), including arthrogryposis, fetal akinesis loss common clinical features. The homozygous Fin Major mutation p.T144_E145insPFQ has described one of the causes for whereas is caused by a heterocompound together p. R569H V617M or I684T missense mutation. None these mutations...
We studied a patient with mitochondrial DNA depletion in skeletal muscle and multiorgan phenotype, including fatal encephalomyopathy, retinopathy, optic atrophy, sensorineural hearing loss. Instead of pathogenic variants the maintenance genes, we identified previously unpublished variant DHX16 gene, de novo heterozygous c.1360C>T (p. Arg454Trp). Variants encoding for DEAH-box RNA helicase have been reported only five patients phenotype called as neuromuscular oculoauditory syndrome...
Microduplications are a rare cause of disease in X-linked neurodevelopmental disorders but likely have been under reported due challenges detection and interpretation.We performed exome sequencing subsequent microarray analysis two families with disorder.Here, we report on each unique inherited microduplications at Xp21.2 Xq13.1, respectively. In the first family, 562.8-kb duplication Xq13.1 covering DLG3, TEX11, SLC7A3, GDPD2, part KIF4A was identified boy whose phenotype characterized by...