A5076131543- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genetic Associations and Epidemiology
- Cleft Lip and Palate Research
- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
- Mitochondrial Function and Pathology
- Prenatal Screening and Diagnostics
- Craniofacial Disorders and Treatments
- MicroRNA in disease regulation
- Retinal Development and Disorders
- RNA modifications and cancer
- Tryptophan and brain disorders
- Information and Cyber Security
- Retinal Diseases and Treatments
- Skin and Cellular Biology Research
- Metabolism and Genetic Disorders
- Treatment of Major Depression
- Carcinogens and Genotoxicity Assessment
- Nuclear Structure and Function
- Diet and metabolism studies
- Cellular transport and secretion
- Retinal and Macular Surgery
- Effects of Radiation Exposure
Vilnius University
2014-2024
Vilnius University Hospital Santariskiu Klinikos
2016-2021
Institute of Biomedical Science
2018-2021
Medical Genetics Center
2018
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function missense variants in <i>KIAA1109</i> allowing delineation an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics this combine brain atrophy clubfoot arthrogryposis. Affected present cerebral parenchymal...
Abstract Background Orofacial clefts are among the most common birth defects with a strong genetic component. Nonsyndromic cleft palate (NSCP) is complex malformation determined by interaction between multiple genes and environmental risk factors. Methods We conducted case‐control association study to investigate role of 40 candidate in predisposition orofacial clefting. Five hundred ninety‐one haplotype tagging single nucleotide polymorphism (tagSNPs) were genotyped clefting sample from...
Nonsyndromic cleft lip with or without palate (CL/P) is a common complex birth defect caused by the interaction between multiple genes and environmental factors.Five hundred eighty-seven single nucleotide polymorphisms in 40 candidate related to orofacial clefting were tested for association CL/P sample composed of 300 patients 606 controls from Estonian, Latvian, Lithuanian populations.In case-control comparisons, minor alleles FGF1 rs34010 (p = 4.56 × 10(-4) ), WNT9B rs4968282 0.0013),...
Abstract Background Silver-Russell syndrome (SRS) is an imprinting disorder which characterised by severe primordial growth retardation, relative macrocephaly and a typical facial gestalt. The clinical heterogeneity of SRS reflected broad spectrum molecular changes with hypomethylation in 11p15 maternal uniparental disomy chromosome 7 (upd(7)mat) as the most frequent findings. Monogenetic causes are rare, but overlap numerous other disorders has been reported. However, comprehensive overview...
Background: Congenital hearing loss (CHL) is diagnosed in 1 -2 newborns 1000, genetic factors contribute to two thirds of CHL cases industrialised countries.Mutations the GJB2 gene located DFNB1 locus (13q11-12) are a major cause worldwide.The aim this cross-sectional study was assess contribution containing and GJB6 genes development early onset affected group participants, determine population-specific mutational profile DFNB1-related HL burden Lithuanian population.Methods: Clinical data...
Silver-Russell syndrome (SRS) is a growth retardation disorder with very broad molecular and clinical spectrum. Whereas the association of SRS imprinting disturbances chromosomes 11p15.5 7 generally accepted, there are controversial discussions on involvement other changes. The recent reports occurrence maternal uniparental disomies 6, 16 20 (upd(6, 16, 20)mat), as well 14q32 imprint alterations in patients phenotypes raise question these mutations etiology SRS. A cohort 54 retarded features...
Abstract Context Silver-Russell syndrome (SRS) is a clinical and molecular heterogeneous disorder associated with short stature, typical facial gestalt, body asymmetry. Though causes of SRS can be identified in significant number patients, about one-half patients currently remain without diagnosis. However, determination the cause required for targeted treatment genetic counselling. Objective The aim this study was to corroborate role HMGA2 as an SRS-causing gene reevaluate its mode...
Abstract Background Kearns‐Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20 years of age and typical clinical triad: progressive external ophthalmoplegia, pigmentary retinopathy cardiac conduction anomalies. In most cases KSS caused spontaneous heteroplasmic single large‐scale DNA (mtDNA) deletions. Long‐range polymerase chain reaction (LR‐PCR), next generation sequencing (NGS) multiplex ligation‐dependent probe amplification (MLPA) are the...
Suicidal ideation, an important risk factor for suicide attempts, has unclear neurobiological basis and is potentially linked to the dysregulation of hypothalamic-pituitary-adrenal (HPA) axis immune-inflammatory systems. While inflammatory markers have been associated with attempts and, a lower extent suicidal data on role stress-response system less robust, most studies carried out cortisol showing inconsistent results. The present study extends previous implicating systems in thoughts...
Juvenile X-linked retinoschisis (XLRS, MIM#312700) belongs to a group of the vitreoretinal dystrophies. We aimed describe phenotype-genotype correlation three XLRS cases in juveniles with different novel mutations from Lithuanian population. The patients demonstrated macular and typical cyst-like cavities on spectral-domain optical coherence tomography (SD-OCT) images. mean central foveal thickness was 569.7 µm. Two presented peripheral retinoschisis. Flash electroretinogram reduced b/a...
In the last decade, one of biggest challenges in genomics research has been to distinguish definitive pathogenic variants from all likely identified by next-generation sequencing. This task is particularly complex because our lack knowledge regarding overall genome variation and pathogenicity variants. Therefore, obtaining sufficient information about general population necessary as such data could be used for interpretation de novo mutations (DNMs) context patient's phenotype cases sporadic...
Although copy number variation (CNV) has received much attention, knowledge about the characteristics of CNVs such as occurrence rate and distribution in genome between populations within same population is still insufficient. In this study, Illumina 770 K HumanOmniExpress-12 v1.0 (and v1.1) arrays were used to examine diversity 286 unrelated individuals from two main ethnolinguistic groups Lithuanian (Aukštaičiai Žemaičiai) (see Additional file 3). For primary data analysis, GenomeStudio™...
Mitochondrial Diseases (MDs) are a diverse group of neurometabolic disorders characterized by impaired mitochondrial oxidative phosphorylation and caused pathogenic variants in more than 400 genes. The implementation next-generation sequencing (NGS) technologies helps to increase the understanding molecular basis diagnostic yield these conditions. purpose study was investigate genotypic spectrum patients with suspected MD. comprehensive analysis mtDNA using Sanger performed 83 unrelated...
Restrictive dermopathy (RD) is a rare lethal autosomal recessive genodermatosis, characterized by abnormally rigid skin with prominent superficial vasculature, erosions and epidermal hyperkeratosis, dysplastic clavicles, joint contractures, mouth fixed in the 'O' position, small pinched nose, neonatal death. Mutations of ZMPSTE24 LMNA genes are reported as causes RD, those being more prevalent. Here, we report on familial c.50delA (p.Lys17Serfs*21) mutation gene, causing RD two siblings.
Abstract Biallelic pathogenic variants in POMK gene are associated with two types of dystroglycanopathies: limb‐girdle muscular dystrophy‐dystroglycanopathy, type C12 (MDDGC12), and congenital dystrophy‐dystroglycanopathy brain eye anomalies, A12 (MDDGA12). These disorders very rare have been previously reported 10 affected individuals. We present unrelated Lithuanian families prenatally detected hydrocephalus due to a homozygous nonsense variant the . The first signs fetuses became evident...
Many studies have shown that molecular karyotyping is an effective diagnostic tool in individuals with developmental delay/intellectual disability. We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb size, detected patient short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual Chromosomal microarray analysis revealed 1.6-Mb deletion region, arr[GRCh37]...