1. SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.

    American Journal of Medical Genetics Part A 170(9):2322 (2016) PMID 27375234

    Loss-of-function de novo mutations in the SETD5 gene, encoding a putative methyltransferase, are an important cause of moderate/severe intellectual disability as evidenced by the results of sequencing large patient cohorts. We present the first familial case of a SETD5 mutation contributing to a...
  2. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.

    The American Journal of Human Genetics 99(1):217 (2016) PMID 27374774

    Complex I deficiency is the most common biochemical phenotype observed in individuals with mitochondrial disease. With 44 structural subunits and over 10 assembly factors, it is unsurprising that complex I deficiency is associated with clinical and genetic heterogeneity. Massively parallel seque...
  3. Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.

    The American Journal of Human Genetics 99(1):188 (2016) PMID 27292112

    In the PI(3,5)P2 biosynthetic complex, the lipid kinase PIKFYVE and the phosphatase FIG4 are bound to the dimeric scaffold protein VAC14, which is composed of multiple heat-repeat domains. Mutations of FIG4 result in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varón syndro...
  4. Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

    European Journal of Paediatric Neurology 20(3):462 (2016) PMID 26879448

    Glycosylphosphatidylinositol (GPI)-anchor deficiencies are a new subclass of congenital disorders of glycosylation. About 26 genes are involved in the GPI-anchor biosynthesis and remodeling pathway, of which mutations in thirteen have been reported to date as causative of a diverse spectrum of i...
  5. Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

    Experimental Eye Research 145:93 (2016) PMID 26593885

    Variation in the ABCA4 locus has emerged as the most prevalent cause of monogenic retinal diseases. The study aimed to discover causative ABCA4 mutations in a large but not previously investigated cohort with ABCA4-related diseases originating from Central Europe and to refine the genetic releva...
  6. DISC1 as a Possible Genetic Contribution to Opioid Dependence in a Polish Sample.

    Journal of Studies on Alcohol and Drugs 77(2):220 (2016) PMID 26997180 PMCID PMC4803654

    Disrupted-in-schizophrenia 1 (DISC1) has been linked to vulnerability to a variety of psychiatric disorders and neuropsychiatric phenotypes. However, DISC1 has not been frequently examined as a potential risk factor for substance dependence. An association between opioid dependence and DISC1 rs2...
  7. Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.

    Biomedical Papers 160(1):161 (2016) PMID 26927468

    Sotos syndrome 2 (MIM #614753), known also as Malan syndrome, is caused by heterozygous mutations/deletions of the NFIX gene located on chromosome 19p13.2. It manifests in developmental delay, intellectual impairment, macrocephaly, central nervous system anomalies, postnatal overgrowth, and cran...
  8. The 4q25, 1q21, and 16q22 polymorphisms and recurrence of atrial fibrillation after pulmonary vein isolation.

    Archives of Medical Science 12(1):38 (2016) PMID 26925117 PMCID PMC4754358

    The efficacy of pulmonary vein isolation (PVI) in atrial fibrillation (AF) is well documented. Several single nucleotide polymorphisms (SNPs) are associated with AF, mainly in the 4q25 locus, but also in 16q22 and 1q21. The aim of our study was to test the association between those SNPs and shor...
  9. Haemophilia A and cardiovascular morbidity in a female SHAM syndrome carrier due to skewed X chromosome inactivation.

    European Journal of Medical Genetics 59(1):43 (2016) PMID 26691666

    We have recently described a severe haemophilia A and moyamoya (SHAM) syndrome caused by Xq28 deletions encompassing F8 and the BRCC3 familial moyamoya gene. The phenotype includes haemophilia A, moyamoya angiopathy, dysmorphia and hypertension. The genetic analysis of the family of our SHAM pat...
  10. Differences in Gene-Gene Interactions in Graves' Disease Patients Stratified by Age of Onset.

    PLoS ONE 11(3):e0150307 (2016) PMID 26943356 PMCID PMC4778933

    Graves' disease (GD) is a complex disease in which genetic predisposition is modified by environmental factors. Each gene exerts limited effects on the development of autoimmune disease (OR = 1.2-1.5). An epidemiological study revealed that nearly 70% of the risk of developing inherited autoimmu...
  11. No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction.

    JIMD reports 27:63 (2016) PMID 26427993 PMCID PMC4864719

    SCO2 mutations cause recessively inherited cytochrome c oxidase deficiency. Recently Tran-Viet et al. proposed that heterozygosity for pathogenic SCO2 variants, including the common E140K variant, causes high-grade myopia. To investigate the association of SCO2 mutations with myopia, ophthalmic ...
  12. Spouse-to-Spouse Transmission and Evolution of Hypervariable Region 1 and 5' Untranslated Region of Hepatitis C Virus Analyzed by Next-Generation Sequencing.

    PLoS ONE 11(2):e0150311 (2016) PMID 26918636 PMCID PMC4769329

    Hepatitis C virus (HCV) transmission between spouses remains poorly characterized, largely due to the limited availability of samples from the early stage of infection, as well as methodological constraints. A fifty-eight year-old male developed acute hepatitis C infection and his 53-year old sp...
  13. A rare mutation in a rare tumor--SMARCB1-deficient malignant glomus tumor.

    Genes, Chromosomes and Cancer 55(1):107 (2016) PMID 26391213

  14. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

    Journal of Translational Medicine 14(1):174 (2016) PMID 27290639 PMCID PMC4903158

    Whole-exome sequencing (WES) has led to an exponential increase in identification of causative variants in mitochondrial disorders (MD). We performed WES in 113 MD suspected patients from Polish paediatric reference centre, in whom routine testing failed to identify a molecular defect. WES was p...
  15. Next-Generation Sequencing of 5' Untranslated Region of Hepatitis C Virus in Search of Minor Viral Variant in a Patient Who Revealed New Genotype While on Antiviral Treatment.

    Advances in Experimental Medicine and Biology 885:11 (2016) PMID 26747069

    The role of mixed infections with different hepatitis C virus (HCV) genotypes in viral persistence, treatment effects, and tissue tropism is unclear. Next-generation sequencing (NGS), which is suitable for analysis of large, genetically diverse populations offers unparalleled advantages for the ...
  16. Metagenomic Analysis of Cerebrospinal Fluid from Patients with Multiple Sclerosis.

    Advances in Experimental Medicine and Biology 935:89 (2016) PMID 27311319

    Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of central nervous system of unknown etiology. However, some infectious agents have been suggested to play a significant role in its pathogenesis. Next-generation sequencing (NGS) and metagenomics can be employed to characte...
  17. Tyrosinemia type III in an asymptomatic girl

    Molecular genetics and metabolism reports 5:48 (2015)

    Tyrosinemia type 3 (HT3) is a rare inborn error of tyrosine metabolism caused by mutations in the HPD gene encoding 4-hydroxyphenyl-pyruvate dioxygenase, which is transmitted in an autosomal recessive trait. The disorder is characterized by tyrosine accumulation in body fluids and mass...
  18. BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.

    Journal of Muscle Research and Cell Motility 36(6):423 (2015) PMID 26545904 PMCID PMC4762926

    BAG3 belongs to BAG family of molecular chaperone regulators interacting with HSP70 and anti-apoptotic protein Bcl-2. It is ubiquitously expressed with strong expression in skeletal and cardiac muscle, and is involved in a panoply of cellular processes. Mutations in BAG3 and aberrations in its e...
  19. The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape

    Current Biology 25(21):2878 (2015)

  20. The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape.

    Current Biology 25(19):2518 (2015) PMID 26387712 PMCID PMC4714572

    Over the past few years, studies of DNA isolated from human fossils and archaeological remains have generated considerable novel insight into the history of our species. Several landmark papers have described the genomes of ancient humans across West Eurasia, demonstrating the presence of large-...