Article
Genetics & Heredity
Joanna Walczak-Sztulpa, Anna Wawrocka, Weronika Sikora, Marta Pawlak, Ewelina Bukowska-Olech, Bartlomiej Kopaczewski, Agnieszka Urzykowska, Heleen H. Arts, Anna Gotz-Wieckowska, Ryszard Grenda, Anna Latos-Bielenska, Renata Glazar
Summary: Cranioectodermal dysplasia (CED) is a rare condition associated with various symptoms and complications such as craniosynostosis, retinal degeneration, and limb abnormalities. A study found that defects in the WDR35 gene may increase the risk of early-onset retinal degeneration in CED patients. Therefore, it is recommended that CED patients with pathogenic variations in the WDR35 gene undergo ophthalmologic evaluation before the age of 4 to detect early signs of retinal degeneration.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Pediatrics
Joanna Ryzko, Joanna Walczak-Sztulpa, Piotr Czubkowski, Anna Latos-Bielenska, Adam Kowalski, Marek Stefanowicz, Wioletta Jarmuzek, Ryszard Grenda, Joanna Pawlowska
Summary: Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a rare genetic disorder characterized by congenital craniofacial, skeletal, and ectodermal defects, as well as kidney and liver insufficiency. We present a case report of sequential liver-after-kidney transplantation in a patient with CED. Multidisciplinary medical management and regular follow-up by hepatologists and nephrologists are crucial for these patients, as liver and kidney diseases are the leading causes of morbidity and mortality.
FRONTIERS IN PEDIATRICS
(2022)
Review
Pediatrics
Lijie Li, Cuihua Liu, Ming Tian, Guangbo Li, Jitong Li
Summary: This study reports a case of a Chinese patient with CED caused by WDR35 variants, who also exhibited a novel phenotype of ectopic testis. This expands our understanding of the genotype-phenotype association in patients with WDR35 variants and provides genetic counseling for prevention and intervention in this genetic disorder.
Article
Clinical Neurology
Thomas Quinaux, Viola Custodi, Audrey Putoux, Justine Bacchetta, Massimiliano Rossi, Federico Di Rocco
Summary: Sensenbrenner syndrome, a rare genetic disorder, presents with various dysmorphic features including dolichocephaly, chronic kidney disease, hepatic fibrosis, retinitis pigmentosa, and brain abnormalities. A multidisciplinary approach in diagnosis and follow-up is crucial for early identification and management of syndromic forms.
CHILDS NERVOUS SYSTEM
(2021)
Article
Cell Biology
James Williams, Chloe Hurling, Sabrina Munir, Peter Harley, Carolina Barcellos Machado, Ana-Maria Cujba, Mario Alvarez-Fallas, Davide Danovi, Ivo Lieberam, Rocio Sancho, Philip Beales, Fiona M. M. Watt
Summary: This study compares renal differentiation of iPS cells from healthy and Bardet-Biedl syndrome (BBS) patients. The results show that BBS10 mutations have no effect on kidney cell proliferation, differentiation, and shape, but the most severe mutation leads to impaired organoid formation. The other two patients with milder mutations can form kidney organoids but degenerate over prolonged culture. Introducing wild type BBS10 gene into the most severely affected patient cells restores organoid formation, while CRISPR-mediated truncating BBS10 mutation in healthy cells results in failure to generate organoids. This study provides a basis for further mechanistic studies on the role of BBS10 in the kidney.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Genetics & Heredity
Gulten Tuncel, Bahar Kaymakamzade, Yeliz Engindereli, Sehime G. Temel, Mahmut Cerkez Ergoren
Summary: Joubert syndrome is a rare neurodevelopmental disease characterized by multiple symptoms, affecting cilia structure and function in various organs. This study reports a patient with diverse phenotypes, including a rare homozygous synonymous AHI1 variation, highlighting the need for further investigation regarding the involvement of related genes in ciliopathy phenotypes like Joubert syndrome.
Article
Biochemistry & Molecular Biology
Oksana Tsyklauri, Veronika Niederlova, Elizabeth Forsythe, Avishek Prasai, Ales Drobek, Petr Kasparek, Kathryn Sparks, Zdenek Trachtulec, Jan Prochazka, Radislav Sedlacek, Philip Beales, Martina Huranova, Ondrej Stepanek
Summary: Bardet-Biedl Syndrome (BBS) patients and corresponding mouse models show higher prevalence of autoimmune diseases and alterations in the hematopoietic system. Dysfunction of the BBSome complex, a common cause of BBS, regulates B cell development in mice and affects canonical WNT signaling. This study reveals a connection between ciliopathy and dysregulated immune and hematopoietic systems.
Article
Genetics & Heredity
Sorina Mihaela Papuc, Alina Erbescu, Adelina Glangher, Ioana Streata, Anca-Lelia Riza, Magdalena Budisteanu, Aurora Arghir
Summary: Orofaciodigital syndrome I (OFD1) is a rare ciliopathy characterized by facial dysmorphism, oral cavity, digit, and brain malformations, and cognitive deficits. Previous studies have mainly reported this X-linked dominant disorder in females. The OFD1 gene is responsible for primary cilia formation and plays a role in various biological processes. The study highlights the potential link between cilia and neurodevelopmental disorders, such as autism, and suggests the need for active screening in OFD1 syndrome patients.
Review
Pharmacology & Pharmacy
Abhi Dutta, Shubham Saha, Ajay Bahl, Anupam Mittal, Trayambak Basak
Summary: Cardiorenal syndrome is a broad spectrum disorder affecting the heart and kidneys. India has a high burden of acute cardiorenal syndrome, with 46.1% of patients diagnosed in India. Acute cardiorenal syndrome involves sudden kidney deterioration in acute heart failure patients. The pathophysiology includes hyperactivation of the sympathetic nervous system and the renin-angiotensin-aldosterone system. Complications increase the risk of mortality, making it a global healthcare burden. Current biomarkers have limitations in early detection, highlighting the need for novel proteomic biomarkers to prevent progression.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Junseok Jeon, Hee Jin Kwon, Heejin Yoo, Darae Kim, Yang Hyun Cho, Jin-Oh Choi, Kyunga Kim, Kiick Sung, Hye Ryoun Jang
Summary: Old age and preexisting CKD may impact renal outcomes after heart transplantation, but severe preoperative renal dysfunction, even requiring renal replacement therapy, may not be a contraindication for heart transplantation. Young age, low preoperative eGFR, and significant renal function improvement within 1 month post-transplantation were independently associated with better renal outcomes.
INTERNATIONAL HEART JOURNAL
(2021)
Review
Biochemistry & Molecular Biology
Piotr Lagosz, Jan Biegus, Szymon Urban, Robert Zymlinski
Summary: Cardiorenal syndrome (CRS) is a complex and heterogeneous spectrum of symptoms that has posed challenges for cardiologists for many years. The coexistence of heart failure (HF) and deteriorated renal function adds to these challenges and is a strong predictor of poor outcomes. However, with the development of new renal assessment methods, we now have the opportunity to treat CRS more effectively than ever before. This review focuses on explaining the pathophysiology, recent advances, and current practices of monitoring renal function in patients with acute CRS, aiming to improve patient care and guide treatment strategies.
Article
Biochemistry & Molecular Biology
Hye In Ka, Mina Cho, Seung-Hae Kwon, Se Hwan Mun, Sora Han, Min Jung Kim, Young Yang
Summary: This study demonstrates the importance of ik in ciliogenesis in vivo for the first time. Loss of ik in zebrafish embryos displays various ciliopathy phenotypes with abnormal ciliary morphology in ciliary tissues. Ik affects ciliogenesis particularly in the proximal tubule.
CELL AND BIOSCIENCE
(2023)
Article
Urology & Nephrology
Miriam Zacchia, Francesca Del Vecchio Blanco, Annalaura Torella, Raffaele Raucci, Giancarlo Blasio, Maria Elena Onore, Emanuela Marchese, Francesco Trepiccione, Caterina Vitagliano, Valentina Di Iorio, Perna Alessandra, Francesca Simonelli, Vincenzo Nigro, Giovambattista Capasso, Davide Viggiano
Summary: This study revealed a high prevalence of renal dysfunction in patients with Bardet-Biedl syndrome, with urine concentrating defect potentially serving as a predictor of disease progression. However, the pathophysiology of hyposthenuria may not be directly linked to specific tubule dysfunctions.
CLINICAL KIDNEY JOURNAL
(2021)
Article
Genetics & Heredity
Hossein Jafari Khamirani, Vivek Reddy Palicharla, Seyed Alireza Dastgheib, Mehdi Dianatpour, Mohammad Hadi Imanieh, Seyed Sajjad Tabei, Whitney Besse, Saikat Mukhopadhyay, Karel F. Liem Jr
Summary: Patient variants in TULP3 gene are associated with progressive fibrocystic disease in tissues and organs. This study reports the clinical features and functional defects of patients with TULP3 gene mutations.
FRONTIERS IN GENETICS
(2022)
Article
Critical Care Medicine
Stephen J. Forest, Robert E. Michler, John P. Skendelas, Joseph J. DeRose, Patricia Friedmann, Michael K. Parides, Stefanie K. Forest, Dhaval Chauhan, Daniel J. Goldstein
Summary: This study investigates the characteristics and outcomes associated with concomitant renal and respiratory failure in critical coronavirus disease 2019 patients. The research indicates that male sex, age greater than or equal to 60 years, obesity, hypertension, and Black race are predictors for requiring renal replacement therapy and in-hospital mortality. Additionally, the study found that concomitant renal failure in critical coronavirus disease 2019 was not a significant predictor of death.
CRITICAL CARE MEDICINE
(2021)
Review
Clinical Neurology
Justyna Paprocka, Michal Hutny, Jagoda Hofman, Agnieszka Tokarska, Magdalena Klaniewska, Krzysztof Szczaluba, Agnieszka Stembalska, Aleksandra Jezela-Stanek, Robert Smigiel
Summary: A systematic review of glycosylphosphatidylinositol-anchored proteins biosynthesis defects (GPIBD) cases was conducted by browsing open-access databases and analyzing data on neurological symptomatology. A total of 77 articles (337 GPIBD cases) were included in the final analysis, focusing on prevalence of neurological symptoms, onset and semiology of seizures and their response to treatment, and onset of developmental delay. The synthesis of phenotypical differences between GPIBD cases groups and the general GPIBD cases population was made based on the gathered information.
FRONTIERS IN NEUROLOGY
(2022)
Article
Genetics & Heredity
Magdalena Badura-Stronka, Robert Smigiel, Karolina Rutkowska, Krystyna Szymanska, Adam Sebastian Hirschfeld, Michal Monkiewicz, Joanna Kosinska, Ewelina Wolanska, Malgorzata Rydzanicz, Anna Latos-Bielenska, Rafal Ploski
Summary: The study aims to characterize the neurobehavioral phenotype of patients with NHLRC2 gene variants. Three previously unreported patients with FINCA syndrome were described, and the neurobehavioral phenotype of all known cases was reviewed. The study identified unfamiliar neurological features of FINCA syndrome and a novel variant in the NHLRC2 gene.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Ewelina Bukowska-Olech, Anna Sowinska-Seidler, Dawid Larysz, Pawel Gawlinski, Grzegorz Koczyk, Delfina Popiel, Lidia Gurba-Bryskiewicz, Anna Materna-Kiryluk, Zuzanna Adamek, Aleksandra Szczepankiewicz, Pawel Dominiak, Filip Glista, Karolina Matuszewska, Aleksander Jamsheer
Summary: The study found that Craniosynostosis has a complex genetic background, including factors such as chromosomal aberrations, copy number variations, or point mutations. The optimization of diagnostic algorithms is vital for daily diagnostics and clinical research. Additionally, the potential relationship between CS and intellectual disability should be given more attention.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2022)
Article
Medicine, General & Internal
Justyna Rogulska, Katarzyna Wroblewska-Seniuk, Robert Smigiel, Jaroslaw Szydlowski, Tomasz Szczapa
Summary: Surfactant is a complex of phospholipids and proteins produced in type II pneumocytes. Its deficiency frequently occurs in preterm infants and causes respiratory distress syndrome. In full-term newborns, its absence results from mutations in the SFTPC, SFTPB, NKX2-1, or ABCA3 genes involved in the surfactant metabolism. We present a case of a male late preterm newborn with inherited surfactant deficiency in whom we identified the likely pathogenic c.604G>A variant in one allele and splice region/intron variant c.4036-3C>G of uncertain significance in the second allele of ABCA3.
Article
Genetics & Heredity
Joanna Walczak-Sztulpa, Anna Wawrocka, Weronika Sikora, Marta Pawlak, Ewelina Bukowska-Olech, Bartlomiej Kopaczewski, Agnieszka Urzykowska, Heleen H. Arts, Anna Gotz-Wieckowska, Ryszard Grenda, Anna Latos-Bielenska, Renata Glazar
Summary: Cranioectodermal dysplasia (CED) is a rare condition associated with various symptoms and complications such as craniosynostosis, retinal degeneration, and limb abnormalities. A study found that defects in the WDR35 gene may increase the risk of early-onset retinal degeneration in CED patients. Therefore, it is recommended that CED patients with pathogenic variations in the WDR35 gene undergo ophthalmologic evaluation before the age of 4 to detect early signs of retinal degeneration.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Marie Veronique Gaudet, Eric Pierre Allain, Lynne M. Gallant, Heleen H. Arts, Mouna Ben Amor
Summary: Copy number variants in the IC2 chromosomal region 11p15.5 are associated with Beckwith-Wiedemann syndrome and Silver-Russell syndrome. This study identified a 132 bp deletion within the KCNQ1OT1 gene in a patient with an SRS clinical phenotype, which is associated with growth restriction when paternally inherited. Compared to previous studies, our research suggests that this deletion may be associated with some degree of clinical variability.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Jacob W. P. Potuijt, Anna Sowinska-Seidler, Ewelina Bukowska-Olech, Picard Nguyen, Aleksander Jankowski, Frank Magielsen, Karolina Matuszewska, Christianne A. van Nieuwenhoven, Robert-Jan H. Galjaard, Annelies de Klein, Aleksander Jamsheer
Summary: In this study, a large Polish family with triphalangeal thumb-polysyndactyly syndrome (TPT-PS) was reported. It was found that all affected individuals shared a pathogenic point mutation in the pre-ZRS region, which led to increased interactions within the SHH regulatory domain.
MOLECULAR GENETICS AND GENOMICS
(2022)
Review
Genetics & Heredity
Fahad A. Alghaith, Heleen H. Arts, Francois J. Plourde, Andrew Boswall, Partima Gulati, P. Daniel McNeely, Philip D. Acott, Kenny K. Wong, Sarah Dyack
Summary: Congenital heart defect is a birth defect that affects the heart's structure and can be caused by both genetic and multifactorial factors. This study describes a patient with phenotypic features consistent with congenital heart defect and ectodermal dysplasia, including previously unreported features such as high intracranial pressure, partial anomalous pulmonary venous return, and bifid uvula.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Genetics & Heredity
Barbara Biedziak, Justyna Dabrowska, Anna Szponar-Zurowska, Ewelina Bukowska-Olech, Aleksander Jamsheer, Ewa Mojs, Jennifer Mulle, Rafal Ploski, Adrianna Mostowska
Summary: This study identified a family with a recurrent 3q29 deletion, which is associated with orofacial clefts. The results suggest that the 3q29 deletion may be the primary risk factor for orofacial clefts, with additional genomic variants, methylation changes, or environmental exposure serving as modifiers of this risk.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Genetics & Heredity
Ewelina Bukowska-Olech, Filip Glista, April Dinwiddie, Alexander Pepler, Aleksander Jamsheer
Summary: Multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) is a rare autosomal recessive genetic disease characterized by intellectual disability, hypotonia, and seizures. Whole exome sequencing identified two deleterious variants in PIGN gene, one novel and one previously reported, leading to MCAHS1. This case report highlights the phenotypic overlap between MCAHS1 and overgrowth disorders, providing valuable insights for clinicians and geneticists.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Izabela M. Krzyzewska, Peter Lauffer, Adri N. Mul, Liselot van der Laan, Andrew Y. F. Li Yim, Jan Maarten Cobben, Jacek Niklinski, Monika A. Chomczyk, Robert Smigiel, Marcel M. A. M. Mannens, Peter Henneman
Summary: We aimed to identify epigenetic biomarkers for Fetal Alcohol Spectrum Disorder (FASD) by analyzing genome-wide DNA methylation profiles. In a subset of severely affected individuals from our previous FASD cohort, we also investigated gene expression profiles to understand the functional effects of altered DNA methylation. We found six differentially methylated regions associated with changes in gene expression. This study provides new insights into the molecular features of FASD and opens avenues for future research into multi-omics biomarkers for diagnosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Justyna Paprocka, Aleksandra Jezela-Stanek, Robert Smigiel, Anna Walczak, Hanna Mierzewska, Anna Kutkowska-Kazmierczak, Rafal Ploski, Ewa Emich-Widera, Barbara Steinborn
Summary: This study analyzed the first Polish patients with confirmed heterozygous pathogenic and potentially pathogenic KIF1A variants. Three novel variants were identified. The authors highlighted the difficulties in classifying particular syndromes due to non-specific and overlapping signs and symptoms, sometimes observed only temporarily.
Article
Medicine, General & Internal
Anna Rozensztrauch, Izabela Dzien, Robert Smigiel
Summary: This study assessed the quality of life and impact on family functioning of children with Menkes disease through a questionnaire survey. The results showed that Menkes disease has a moderate impact on the functioning of the affected children's families, but factors such as age, number of epileptic seizures, and treatment with copper histidine do not significantly affect their quality of life.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Genetics & Heredity
Michal Bloch, Piotr Gasperowicz, Sylwester Gerus, Katarzyna Rasiewicz, Arleta Lebioda, Pawel Skiba, Rafal Ploski, Dariusz Patkowski, Pawel Karpinski, Robert Smigiel
Summary: Esophageal atresia (EA) is a common malformation of the upper gastrointestinal tract, with an estimated incidence of 1 in 3500 births. The exact cause of isolated EA is unknown, but it is believed to have a multifactorial etiology, including epigenetic gene expression modifications. A study on twins revealed differences in methylation profiles between EA patients and their healthy siblings, with hypermethylation observed in the promoters of 219 genes and hypomethylation in the promoters of 78 genes. Pathway enrichment analysis highlighted the significant differences in methylation profile of 10 hypermethylated genes in the Rho GTPase pathway.
Article
Pediatrics
Michaela Dellenmark Blom, Stefanie Witt, Benjamin Zendejas, Ivana Sabolic, Juan Domingo Porras-Hernandez, Natalie Durkin, Simon Eaton, Kjersti Birketvedt, Alba Sanchez Galan, Katalin Eszter Muller, Anna Rozensztrauch, Tutku Soyer, Siqi Li, Anastasia Fourtaka, Corne de Vos, Graham Slater, Ana Spoljaric, John Bennett, Ragnhild Emblem, Zita Andrasdi, Robert Smigiel, Dariusz Patkowski, Cigdem Ulukaya Durakbasa, Marina Stilinovic, Frederic Gottrand, Dora Skrljak Sosa, Tomislav Luetic, Sylwester Gerus, Shen Yang, Yong Zhao, Yichao Gu, Shuangshuang Li, Diego Rodriguez-Alvirde, Orsolya Kadenczki, Miram Pasini, Vuokko Wallace, Anke Widenmann, Feliciana Milagres Sikwete, Jinshi Huang, Leopoldo Martinez Martinez, Kate Abrahamsson, Shawn Izadi, Benno M. Ure, Daniel Sidler, Julia H. Quitmann, Jens Dingemann, Int EA-QOL Grp
FRONTIERS IN PEDIATRICS
(2023)