Piotr Stawiński
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View article: Rubinstein–Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants
Rubinstein–Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants Open
Background: Rubinstein–Taybi syndrome (RSTS) is characterized by intellectual disability, short stature, distinctive facial dysmorphism, broad thumbs/halluces, hearing loss, congenital heart or renal defects, and cryptorchidism in males. P…
View article: Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene
Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene Open
Senataxin, an RNA/DNA helicase, is a key protein providing genome stability and one of the best characterized R-loop-binding factors playing an important role in transcription and DNA repair processes. Pathogenic SETX gene variants cause a…
View article: Genetic architecture of dilated cardiomyopathy in Poland: variant distribution, clinical characteristics and prognosis
Genetic architecture of dilated cardiomyopathy in Poland: variant distribution, clinical characteristics and prognosis Open
The distribution of causative genetic variants in Polish DCM patients is similar to that in Western European cohorts. The presence of the causative variants in the genes other than TTN is associated with a poorer prognosis.
View article: Molecular Review of Suspected Alport Syndrome Patients—A Single-Centre Experience
Molecular Review of Suspected Alport Syndrome Patients—A Single-Centre Experience Open
Background: Alport syndrome (AS) is a clinically and genetically heterogeneous glomerulopathy resulting from pathogenic variants in COL4A3, COL4A4, and COL4A5. Genetic diagnosis is increasingly being conducted using next-generation sequenc…
View article: Clinical features, etiology and survival in patients with restrictive cardiomyopathy: A single center experience
Clinical features, etiology and survival in patients with restrictive cardiomyopathy: A single center experience Open
Genetic testing should be considered in every RCM patient where light-chain amyloidosis has been excluded. Survival remains poor regardless of etiology. Increased concentrations of GDF-15, hs-TNT, NT-proBNP, and pericardial effusion are as…
View article: Cardiovascular involvement and prognosis in Loeys-Dietz syndrome
Cardiovascular involvement and prognosis in Loeys-Dietz syndrome Open
LDS is associated with high burden of cardiovascular complications at a young age.
View article: Clinical heterogeneity of polish patients with <i>KAT6B</i>–related disorder
Clinical heterogeneity of polish patients with <i>KAT6B</i>–related disorder Open
Background Say‐Barber‐Biesecker‐Young‐Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically heterogenous disorder, caused by pathogenic variants in the KAT6B gene located on chromosome 10q22.2. KAT6B encode…
View article: Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients
Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients Open
Familial hypercholesterolemia (FH) is an inherited, autosomal dominant metabolic disorder mostly associated with disease-causing variant in LDLR, APOB or PCSK9. Although the dominant changes are small-scale missense, frameshift and splicin…
View article: Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias Open
Skeletal dysplasias (SDs) are a large, heterogeneous group of mostly genetic disorders that affect the bones and cartilage, resulting in abnormal growth and development of skeletal structures. The high clinical and genetic diversity in SDs…
View article: Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing
Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing Open
Clonal evolution drives treatment failure in multiple myeloma (MM). Here, we used a custom 372-gene panel to track genetic changes occurring during MM progression at different stages of the disease. A tumor-only targeted next-generation DN…
View article: Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Squamous Cell Carcinomas Identifies KMT2C as a Potential Tumor Suppressor
Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Squamous Cell Carcinomas Identifies KMT2C as a Potential Tumor Suppressor Open
Hypopharyngeal cancer is a poorly characterized type of head and neck squamous cell carcinoma (HNSCC) with bleak prognosis and only few studies focusing specifically on the genomic profile of this type of cancer. We performed molecular pro…
View article: Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene
Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene Open
View article: Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment
Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment Open
Titin truncating variants (TTNtv) are known as the leading cause of inherited dilated cardiomyopathy (DCM). Nevertheless, it is unclear whether circulating cardiac biomarkers are helpful in detection and risk assessment. We sought to asses…
View article: WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability
WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability Open
Investigating novel genetic variants involved in intellectual disability (ID) development is essential. X-linked intellectual disability (XLID) accounts for over 10% of all cases of ID in males. XLID genes are involved in many cellular pat…
View article: Diagnostic utility of genetic testing in restrictive cardiomyopathy a single refferal centre experience
Diagnostic utility of genetic testing in restrictive cardiomyopathy a single refferal centre experience Open
Introduction Restrictive cardiomyopathy (RCM) is considered to have a genetic background in approximately 50–60% of patients (pts) [1,2,3]. Purpose The aim of the study was to assess the frequency of pathogenic gene variants in Polish pati…
View article: Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Cancers Identifies <i>KMT2C</i> as a Potential Tumor Suppressor
Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Cancers Identifies <i>KMT2C</i> as a Potential Tumor Suppressor Open
Hypopharyngeal cancer represents one of worst types of head and neck tumors with only few studies focusing on the genomic profile of this type of cancer. Using targeted next-generation sequencing we analyzed 48 HPV-negative tumor samples i…
View article: Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations Open
Renal cystic diseases are characterized by genetic and phenotypic heterogeneity. Congenital renal cysts can be classified as developmental disorders and are commonly diagnosed prenatally using ultrasonography and magnetic resonance imaging…
View article: Titin-Related Dilated Cardiomyopathy: The Sequence of Events and The Role of Circulating Biomarkers in The Clinical Assessment
Titin-Related Dilated Cardiomyopathy: The Sequence of Events and The Role of Circulating Biomarkers in The Clinical Assessment Open
Titin truncating variants ( TTN tv) are known as the leading cause of inherited dilated cardiomyopathy (DCM). Nevertheless, the clinical course is not fully understood and it is unclear whether circulating cardiac biomarkers are helpful in…
View article: The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited Xq24 Deletion including the UBE2A and CXorf56 Genes
The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited Xq24 Deletion including the UBE2A and CXorf56 Genes Open
Psychomotor delay, hypotonia, and intellectual disability, as well as heart defects, urogenital malformations, and characteristic cranio-facial dysmorphism are the main symptoms of dysmorphic syndrome associated with intergenic deletion in…
View article: Mosaic <i>IL6ST</i> variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy
Mosaic <i>IL6ST</i> variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy Open
Interleukin-6 signal transducer (IL6ST) encodes the GP130 protein which transduces the proinflammatory signaling of the IL6 cytokine family through Janus kinase signal transducers and activators of transcription pathway (JAK/STAT) activati…
View article: Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes. Open
Previously, there were no comprehensive reports of IRDs in the Polish population. This study is the first to indicate that the most common IRDs in Poland are ABCA4-associated diseases, regardless of the phenotype. In Polish patients…
View article: Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications Open
Background Phenotypically discordant monozygotic twins (PDMZTs) offer a unique opportunity to study post‐zygotic genetic variation and provide insights into the linkage between genotype and phenotype. We report a comprehensive analysis of …
View article: The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (p.Gln1981*)
The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (p.Gln1981*) Open
The Mediator complex subunit 13-like is a part of the large Mediator complex. Recently, a large number of patients were diagnosed with mutations in this gene, which makes it one of the most frequent causes of syndromic intellectual disabil…
View article: First familial cases of type 2 congenital erythrocytosis (ECYT2) with a Chuvash pathogenic variant in VHL gene in Poland: example of the clinical utility of next-generation sequencing in diagnostics of orphan diseases
First familial cases of type 2 congenital erythrocytosis (ECYT2) with a Chuvash pathogenic variant in VHL gene in Poland: example of the clinical utility of next-generation sequencing in diagnostics of orphan diseases Open
In this article, we report familial cases of type 2 congenital erythrocytosis (ECYT2) in two siblings, a 2-year-old boy and his younger sister. Both patients were diagnosed based on laboratory findings including erythrocytosis, elevated he…
View article: Genetically determined hearing loss – perspectives anddiagnostic capabilities of next-generation sequencing
Genetically determined hearing loss – perspectives anddiagnostic capabilities of next-generation sequencing Open
Przyczyną około 50–60% przypadków wystąpienia niedosłuchu są czynniki dziedziczne. Geny, w których zlokalizowane są warianty odpowiedzialne za wystąpienie niedosłuchu, najczęściej kodują białka występujące w uchu wewnętrznym. Za niedosłuch…
View article: DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration Open
View article: Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the <i>SON</i> gene
Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the <i>SON</i> gene Open
Background The genetic etiology of intellectual and psychomotor disability without a defined spectrum of dysmorphic features is usually monogenic. As no diagnostic criteria for such diseases are established, the clinical diagnosis becomes …
View article: Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit Open
Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large number of genetic diseases, molecular and phenotype heterogeneity and often severe course, these diseases remain undiagnosed. In infants with a sus…
View article: Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype Open
De novo balanced chromosomal aberrations (BCAs), such as reciprocal translocations and inversions, are genomic aberrations that, in approximately 25% of cases, affect the human phenotype. Delineation of the exact structure of BCAs may prov…
View article: AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant Open