Article
Audiology & Speech-Language Pathology
Tianyang Zhang, Zhenhang Xu, Danya Zheng, Xuechun Wang, Jingchun He, Luping Zhang, Marisa Zallocchi
Summary: Pediatric auditory neuropathy spectrum disorder is a type of hearing loss caused by abnormal sound transmission, and a study has identified novel biallelic variants in the PLEC gene in three individuals with profound deafness, highlighting the involvement of plectin in inner ear function. The study also showed that plectin knockdown resulted in a reduction of synaptic mitochondrial potential and loss of ribbon synapses, suggesting its role in neuronal transmission. This finding is important for diagnosis and treatment of hearing loss.
Article
Genetics & Heredity
Weigang Ji, Xiangtian Kong, Honggang Yin, Jian Xu, Xueqian Wang
Summary: Mutations in the SMPD4 gene lead to NEDMABA, a neurodevelopmental disorder. This case study is the first report of NEDMABA in individuals of Chinese ancestry, expanding the understanding of this syndrome.
FRONTIERS IN GENETICS
(2022)
Review
Genetics & Heredity
Fang Liu, Liying Dai, Zhi Li, Xiaowei Yin's
Summary: Three novel variants of the NEK9 gene associated with neonatal arthrogryposis were reported in this study. Trio-whole-exome sequencing and copy number variation analysis revealed three previously unreported pathogenic variants in two families. Different types of mutations in NEK9 were found to lead to different phenotypes, expanding the clinical spectrum and gene spectrum of NEK9-associated arthrogryposis.
FRONTIERS IN GENETICS
(2023)
Article
Immunology
Bruna Ramos Tosta, Ingrid Marins de Almeida, Laiane da Cruz Pena, Hatilla dos Santos Silva, Fabiane S. Reis-Goes, Nivia N. Silva, Joao Victor Andrade Cruz, Mailane dos Anjos Silva, Jessica Francisco de Araujo, Juliana Lopes Rodrigues, Gabriella Oliveira, Ricardo Gassmann Figueiredo, Sara Nunes Vaz, Iris Montano-Castellon, Daniele Santana, Fabyan Esberard de Lima Beltrao, Valdirene Leao Carneiro, Gubio Soares Campos, Carlos Brites, Vitor Fortuna, Camila Alexandrina Figueiredo, Soraya Castro Trindade, Helton Estrela Ramos, Ryan dos Santos Costa
Summary: The study found an association between MTOR gene variants and the severity of COVID-19 outcomes, with certain variants potentially predisposing individuals to develop into severe cases. When inherited collectively, these variants exhibit a cumulative risk.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2023)
Article
Immunology
Laura E. Martinez-Gomez, Brigida Herrera-Lopez, Carlos Martinez-Armenta, Silvestre Ortega-Pena, Maria del Carmen Camacho-Rea, Carlos Suarez-Ahedo, Paola Vazquez-Cardenas, Gilberto Vargas-Alarcon, Gustavo Rojas-Velasco, Jose Manuel Fragoso, Patricia Vidal-Vazquez, Juan P. Ramirez-Hinojosa, Yunuen Rodriguez-Sanchez, David Barron-Diaz, Mariana L. Moreno, Felipe de J. Martinez-Ruiz, Dulce M. Zayago-Angeles, Monica Maribel Mata-Miranda, Gustavo Jesus Vazquez-Zapien, Adriana Martinez-Cuazitl, Edith Barajas-Galicia, Ludwing Bustamante-Silva, Diana Zazueta-Arroyo, Jose Manuel Rodriguez-Perez, Olivia Hernandez-Gonzalez, Roberto Coronado-Zarco, Vania Lucas-Tenorio, Rafael Franco-Cendejas, Luis Esau Lopez-Jacome, Rocio Carmen Vazquez-Juarez, Jonathan J. Magana, Marlid Cruz-Ramos, Julio Granados, Susana Hernandez-Dono, Diego Delgado-Saldivar, Luis Ramos-Tavera, Irma Coronado-Zarco, Gustavo Guajardo-Salinas, Jose Francisco Munoz-Valle, Carlos Pineda, Gabriela Angelica Martinez-Nava, Alberto Lopez-Reyes
Summary: The study found that the T allele of ACE2 gene rs2285666 may be associated with severe outcomes of COVID-19, especially in men, regardless of age, hypertension, obesity, and type 2 diabetes.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Clinical Neurology
Emily Shelkowitz, Nicholas V. Stence, Ilana Neuberger, Kristen L. Park, Margarita S. Saenz, Emily Pao, Nora Oyama, Seth D. Friedman, Dennis W. W. Shaw, Ghayda M. Mirzaa
Summary: This study found that inactivating mutations in PTEN are one of the causes of megalencephaly, and activating mutations in other nodes of the PI3K/AKT/MTOR signaling pathway are associated with cortical brain malformations. The study identified four main phenotypes of cortical dysplasias caused by PTEN mutations and found favorable long-term outcomes.
PEDIATRIC NEUROLOGY
(2023)
Article
Psychiatry
Daniela Peilstocker, Christine Meisinger, Jakob Linseisen, Jessica Baumgartner, Alkomiet Hasan, Max Schmauss, Inge Kirchberger
Summary: This study investigated the relationship between peripheral blood cytokines and cognitive performance in patients with severe depressive disorder. The results identified several cytokines that were associated with cognitive performance, but these associations did not remain significant after adjustment for multiple testing. With further research, these cytokines may become potential targets for new treatments.
JOURNAL OF PSYCHIATRIC RESEARCH
(2023)
Article
Psychiatry
Ida E. Sonderby, Dennis van der Meer, Clara Moreau, Tobias Kaufmann, G. Bragi Walters, Maria Ellegaard, Abdel Abdellaoui, David Ames, Katrin Amunts, Micael Andersson, Nicola J. Armstrong, Manon Bernard, Nicholas B. Blackburn, John Blangero, Dorret I. Boomsma, Henry Brodaty, Rachel M. Brouwer, Robin Buelow, Rune Boen, Wiepke Cahn, Vince D. Calhoun, Svenja Caspers, Christopher R. K. Ching, Sven Cichon, Simone Ciufolini, Benedicto Crespo-Facorro, Joanne E. Curran, Anders M. Dale, Shareefa Dalvie, Paola Dazzan, Eco J. C. de Geus, Greig I. de Zubicaray, Sonja M. C. de Zwarte, Sylvane Desrivieres, Joanne L. Doherty, Gary Donohoe, Bogdan Draganski, Stefan Ehrlich, Else Eising, Thomas Espeseth, Kim Fejgin, Simon E. Fisher, Tormod Fladby, Oleksandr Frei, Vincent Frouin, Masaki Fukunaga, Thomas Gareau, Tian Ge, David C. Glahn, Hans J. Grabe, Nynke A. Groenewold, Omar Gustafsson, Jan Haavik, Asta K. Haberg, Jeremy Hall, Ryota Hashimoto, Jayne Y. Hehir-Kwa, Derrek P. Hibar, Manon H. J. Hillegers, Per Hoffmann, Laurena Holleran, Avram J. Holmes, Georg Homuth, Jouke-Jan Hottenga, Hilleke E. Hulshoff Pol, Masashi Ikeda, Neda Jahanshad, Christiane Jockwitz, Stefan Johansson, Erik G. Joensson, Niklas R. Jorgensen, Masataka Kikuchi, Emma E. M. Knowles, Kuldeep Kumar, Stephanie Le Hellard, Costin Leu, David E. J. Linden, Jingyu Liu, Arvid Lundervold, Astri Johansen Lundervold, Anne M. Maillard, Nicholas G. Martin, Sandra Martin-Brevet, Karen A. Mather, Samuel R. Mathias, Katie L. McMahon, Allan F. McRae, Sarah E. Medland, Andreas Meyer-Lindenberg, Torgeir Moberget, Claudia Modenato, Jennifer Monereo Sanchez, Derek W. Morris, Thomas W. Muehleisen, Robin M. Murray, Jacob Nielsen, Jan E. Nordvik, Lars Nyberg, Loes M. Olde Loohuis, Roel A. Ophoff, Michael J. Owen, Tomas Paus, Zdenka Pausova, Juan M. Peralta, G. Bruce Pike, Carlos Prieto, Erin B. Quinlan, Celine S. Reinbold, Tiago Reis Marques, James J. H. Rucker, Perminder S. Sachdev, Sigrid B. Sando, Peter R. Schofield, Andrew J. Schork, Gunter Schumann, Jean Shin, Elena Shumskaya, Ana I. Silva, Sanjay M. Sisodiya, Vidar M. Steen, Dan J. Stein, Lachlan T. Strike, Ikuo K. Suzuki, Christian K. Tamnes, Alexander Teumer, Anbupalam Thalamuthu, Diana Tordesillas-Gutierrez, Anne Uhlmann, Magnus O. Ulfarsson, Dennis van 't Ent, Marianne B. M. van den Bree, Pierre Vanderhaeghen, Evangelos Vassos, Wei Wen, Katharina Wittfeld, Margaret J. Wright, Ingrid Agartz, Srdjan Djurovic, Lars T. Westlye, Hreinn Stefansson, Kari Stefansson, Sebastien Jacquemont, Paul M. Thompson, Ole A. Andreassen
Summary: The study found distinct differences in brain structure and cognitive function among carriers of low-frequency 1q21.1 distal deletion and duplication, demonstrating the gene dose effect on specific brain structures and cognitive function.
TRANSLATIONAL PSYCHIATRY
(2021)
Article
Genetics & Heredity
Marije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, Justyna Iwaszkiewicz, Maaike Bastiaansen, Ligia Mateiu, Merlijn Nemegeer, Josephina A. N. Meester, Alexandra Afenjar, Michelle Amaral, Diana Ballhausen, Sarah Barnett, Magalie Barth, Bob Asselbergh, Katrien Spaas, Bavo Heeman, Jennifer Bassetti, Patrick Blackburn, Marie Schaer, Xavier Blanc, Vincent Zoete, Kari Casas, Thomas Courtin, Diane Doummar, Frederic Guerry, Boris Keren, John Pappas, Rachel Rabin, Amber Begtrup, Marwan Shinawi, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, Matias Wagner, Alban Ziegler, Elise Schaefer, Benedicte Gerard, Charlotte De Bie, Sjoerd J. B. Holwerda, Mary Alice Abbot, Stylianos E. Antonarakis, Bart Loeys
Summary: This study describes a neurodevelopmental disorder caused by de novo variants in CTR9, primarily affecting PAF1C function. Clinical features of the patients include intellectual disability, hypotonia, joint hyperlaxity, speech delay, coordination problems, tremor, and autism spectrum disorder.
GENETICS IN MEDICINE
(2022)
Article
Multidisciplinary Sciences
Mary-Ellen Lynall, Blagoje Soskic, James Hayhurst, Jeremy Schwartzentruber, Daniel F. Levey, Gita A. Pathak, Renato Polimanti, Joel Gelernter, Murray B. Stein, Gosia Trynka, Menna R. Clatworthy, Ed Bullmore
Summary: Genetic risk variants for multiple psychiatric disorders are enriched in genomic regions active in the brain and lymphoid cells, especially stimulated T cells, but not in myeloid cells.
NATURE COMMUNICATIONS
(2022)
Article
Genetics & Heredity
Hagit Daum, Mythily Ganapathi, Yoel Hirsch, Emily L. Griffin, Charles A. LeDuc, Jacob Hagen, Simcha Yagel, Vardiella Meiner, Wendy K. Chung, Hagar Mor-Shaked
Summary: Exome and genome sequencing were used to identify the genetic cause of a severe neurodevelopmental disorder in two unrelated Ashkenazi Jewish families with three affected individuals. A rare homozygous variant in the PAGR1 gene was identified, suggesting its association with a novel autosomal recessive syndromic neurodevelopmental disorder. This gene encodes a component of the histone methyltransferase MLL2/MLL3 complex and may play a role in the DNA damage response pathway.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Lisa Pavinato, Jennifer Stanic, Marta Barzasi, Antonia Gurgone, Giuseppe Chiantia, Valentina Cipriani, Ivano Eberini, Luca Palazzolo, Monica Di Luca, Alex Costa, Andrea Marcantoni, Elisa Biamino, Marco Spada, Susan M. Hiatt, Whitley Kelley, Letizia Vestito, Stephanie Efthymiou, Prem Chand, Rauan Kaiyrzhanov, Alessandro Bruselles, Simona Cardaropoli, Marco Tartaglia, Silvia De Rubies, Joseph D. Buxbaum, Damian Smedley, Giovanni Battista Ferrero, Maurizio Giustetto, Fabrizio Gardoni, Alfredo Brusco, Genomics England Res Consortium
Summary: This study demonstrates that missense gain-of-function variants in RPH3A increase the levels of GluN2A-containing NMDA ionotropic glutamate receptors at extrasynaptic sites, altering synaptic function and leading to clinically variable neurodevelopmental disorders ranging from untreatable epilepsy to autism spectrum disorder.
GENETICS IN MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Thomas Rolland, Freddy Cliquet, Richard J. L. Anney, Clara Moreau, Nicolas Traut, Alexandre Mathieu, Guillaume Huguet, Jinjie Duan, Varun Warrier, Swan Portalier, Louise Dry, Claire S. Leblond, Elise Douard, Frederique Amsellem, Simon Malesys, Anna Maruani, Roberto Toro, Anders D. Borglum, Jakob Grove, Simon Baron-Cohen, Alan Packer, Wendy K. Chung, Sebastien Jacquemont, Richard Delorme, Thomas Bourgeron
Summary: The prevalence of autism-associated genetic variants in individuals without a diagnosis of autism is explored. These variants are associated with a decrease in fluid intelligence, qualification level, income, and an increase in metrics related to material deprivation. Autism-associated genes have a larger impact on these phenotypic features than other genes with loss-of-function variants.
Review
Nutrition & Dietetics
Sanjay Basak, Ranjit K. Das, Antara Banerjee, Sujay Paul, Surajit Pathak, Asim K. Duttaroy
Summary: Obesity in pregnancy has various effects on fetal neurodevelopment, such as disturbing the transport of essential long-chain PUFAs for brain development and altering the maternal gut microbiota, which further affects fetal brain development.
Article
Medicine, Research & Experimental
Gundula Povysil, Guillaume Butler-Laporte, Ning Shang, Chen Wang, Atlas Khan, Manal Alaamery, Tomoko Nakanishi, Sirui Zhou, Vincenzo Forgetta, Robert J. M. Eveleigh, Mathieu Bourgey, Naveed Aziz, Steven J. M. Jones, Bartha Knoppers, Stephen W. Scherer, Lisa J. Strug, Pierre Lepage, Jiannis Ragoussis, Guillaume Bourque, Jahad Alghamdi, Nora Aljawini, Nour Albes, Hani M. Al-Afghani, Bader Alghamdi, Mansour S. Almutairi, Ebrahim Sabri Mahmoud, Leen Abu-Safieh, Hadeel El Bardisy, Fawz S. Al Harthi, Abdulraheem Alshareef, Bandar Ali Suliman, Saleh A. Alqahtani, Abdulaziz Almalik, May M. Alrashed, Salam Massadeh, Vincent Mooser, Mark Lathrop, Mohamed Fawzy, Yaseen M. Arabi, Hamdi Mbarek, Chadi Saad, Wadha Al-Muftah, Junghyun Jung, Serghei Mangul, Radja Badji, Asma Al Thani, Said I. Ismail, Ali G. Gharavi, Malak S. Abedalthagafi, J. Brent Richards, David B. Goldstein, Krzysztof Kiryluk
Summary: The study found no evidence of association between rare pLOF variants in 13 candidate genes and severe COVID-19 outcomes. Only one rare pLOF mutation was identified across these genes among cases with severe COVID-19, and there was no enrichment of pLOFs in severe cases compared to controls or mild COVID-19 cases.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Dermatology
Mingfeng Li, Kenneth Lay, Andreas Zimmer, Kristin Technau-Hafsi, Jasmine Wong, Antonia Reimer-Taschenbrecker, Jan Rohr, Ebtesam Abdalla, Judith Fischer, Bruno Reversade, Cristina Has
Summary: A previously unreported NLRP1 gene variant was identified, leading to different clinical presentations in two sisters. The variant triggered the activation of inflammation and resulted in different severity of skin manifestations.
BRITISH JOURNAL OF DERMATOLOGY
(2023)
Article
Medicine, Research & Experimental
Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker-Ravi, Burak Saribas, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean-Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande-Beillard, Andreas Mayer, Bruno Reversade
Summary: Exome sequencing has revolutionized the identification of germline variations responsible for Mendelian diseases, but it cannot capture non-coding regions. This study demonstrates how RNA-seq can complement exome sequencing by identifying a deep intronic mutation in a gene associated with Osteogenesis Imperfecta and neonatal progeria syndrome. The mutation alters pre-mRNA processing and leads to exon skipping, revealing the importance of transcriptomic approaches in understanding the molecular mechanisms of human diseases.
EMBO MOLECULAR MEDICINE
(2023)
Article
Multidisciplinary Sciences
Katherine A. Kentistou, Jian'an Luan, Laura B. L. Wittemans, Catherine Hambly, Lucija Klaric, Zoltan Kutalik, John R. Speakman, Nicholas J. Wareham, Timothy J. Kendall, Claudia Langenberg, James F. Wilson, Peter K. Joshi, Nicholas M. Morton
Summary: Our understanding of the genetic contribution to human adiposity is incomplete, as few studies measure adiposity directly. In this study, the authors used whole-body imaging adiposity phenotypes in large biobanks to enhance their ability to discover genes driving human adiposity, and investigated one such gene using a mouse model.
NATURE COMMUNICATIONS
(2023)
Article
Hematology
Rita Marchi, Stephane Dural, Oceane Pecheux, Marguerite Neerman-Arbez, Alessandro Casini
Summary: This study investigated the impact of pregnancy on the hemostatic balance in a woman with hereditary mild hypofibrinogenemia. The results showed that fibrinogen levels increased, fibrin polymerisation increased, fibrinolysis decreased, the fibrin clot network became denser with thicker fibrin fibers, and thrombin generation increased during pregnancy. This study reveals the physiological changes in the hemostatic system of pregnant women with hereditary mild hypofibrinogenemia.
Article
Obstetrics & Gynecology
Bashayer Saeed, Asma Tulbah, Marwah Bintalib, Edward Bentz De Vol, Samar Almogbel, Mawadah BaAli, Hanifa Bukhari, Meshayel Foudaneel, Jawaher Almutairi, Maram Bin Mahfodh, Maha Tulbah, Maha Alnemer, Wesam Kurdi
Summary: This retrospective study aimed to review the natural antenatal history, maternal and fetal complications, and therapeutic modalities used in pregnancies complicated with placental chorioangioma. The study concluded that ultrasound remains the gold standard for prenatal diagnosis and follow-up, and more data and research are needed to determine the superior modality of fetal intervention.
JOURNAL OF PERINATAL MEDICINE
(2023)
Article
Psychology, Biological
Tabea Schoeler, Doug Speed, Eleonora Porcu, Nicola Pirastu, Jean-Baptiste Pingault, Zoltan Kutalik
Summary: While volunteer-based studies in genetic epidemiology have become popular, the participants often do not represent the target population. This study used UK Biobank data and a representative sample to calculate participation probabilities and conducted weighted genome-wide association analysis on 19 traits. The findings showed that increasing representativeness led to changes in SNP effect sizes, identified new SNP associations, and had significant impact on genetic correlations and Mendelian randomization estimates for socio-behavioural traits.
NATURE HUMAN BEHAVIOUR
(2023)
Letter
Cardiac & Cardiovascular Systems
Alexandre Janin, Evan Gouy, Audrey Putoux, Thomas Perouse-de-Monclos, Philippe Chevalier, Adele Faucherre, Jourdano Mancilla Abaroa, Chris Jopling, Sophie Collardeau Frachon, Jelena Radojevic, Salima El Chehadeh, Gilles Millat
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2023)
Article
Clinical Neurology
Natalie Ahmad, Walid Fazeli, Sophia Schliesske, Gaetan Lesca, Zeynep Gokce-Samar, Kedous Y. Mekbib, Sheng Chih Jin, Jennifer Burton, George Hoganson, Andrea Petersen, Sara Gracie, Leslie Granger, Enrika Bartels, Henry Oppermann, Adam Kundishora, Marianne Till, Clara Milleret-Pignot, Shane Danger, David Viskochil, Katherine J. Anderson, Timothy Blake Palculict, Rhonda E. Schnur, Ingrid M. Wentzensen, George E. Tiller, Kristopher T. Kahle, Wolfram S. Kunz, Sebastian Burkart, Matias Simons, Heinrich Sticht, Rami Abou Jamra, Sonja Neuser
Summary: This study confirms the association between RAB11B mutations and neurodevelopmental disorders, and identifies a correlation between different types of mutations and the severity of phenotypes.
PEDIATRIC NEUROLOGY
(2023)
Article
Public, Environmental & Occupational Health
Evaldas Kazlauskas, Giedre Smailyte, Ingrida Domarkiene, Vaidutis Kucinskas, Ausra Matuleviciene, Ask Elklit, Gabriele Zukauskaite, Laima Ambrozaityte
Summary: The study investigated the mental health of Lithuanian Chornobyl clean-up workers 35 years after the disaster. Depression symptoms were significantly higher in the clean-up workers compared to the control group, with a prevalence of severe depression symptoms of 23.4% in the clean-up workers. The risk for severe depression was associated with Chornobyl clean-up work, highlighting the importance of providing psychosocial support programs for clean-up workers to mitigate the adverse effects.
GLOBAL HEALTH ACTION
(2023)
Article
Biology
Eva Hasel de Carvalho, Shivani S. Dharmadhikari, Kateryna Shkarina, Jingwei Rachel Xiong, Bruno Reversade, Petr Broz, Maria Leptin
Summary: The researchers constructed a light-responsive form of the inflammasome adaptor protein, allowing tight control of inflammasome formation within cells. By introducing this construct into zebrafish, they were able to induce inflammasome formation in individual skin cells. They found that the resulting cell death from inflammasome formation varied morphologically in different cell types.
Review
Genetics & Heredity
Tautvydas Rancelis, Ingrida Domarkiene, Laima Ambrozaityte, Algirdas Utkus
Summary: A large number of genome variants are associated with complex traits, and polygenic risk scores (PRSs) are widely used to calculate an individual's prognosis for such traits. However, the practical implementation of this method for complex traits is still limited, mainly due to statistical noise and small effect sizes. Simplifying the calculation by using core genes from an omnigenic model may reduce accuracy but could enhance usability. Integrating genome data with datasets from various disciplines could improve the prediction of complex traits. This review emphasizes the importance of clear biological pathways in understanding behavior traits, particularly the role of genes related to hormones, enzymes, and neurotransmitters as robust core genes. Significant variations in these core genes are observed in behavior traits such as stress response, impulsivity, and substance use.
Article
Clinical Neurology
Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothee Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, Pierangelo Veggiotti
Summary: ADSL deficiency is a rare inherited metabolic disorder with varied phenotypic expressions. A systematic review of published cases revealed common patterns in clinical, neuroradiological, and neurophysiological features, despite the lack of precise phenotype-genotype correlation. Symptoms often onset within the first year of life, with epilepsy being a prominent feature in the vast majority of cases.
Article
Medicine, General & Internal
Evelina Siavriene, Gunda Petraityte, Violeta Mikstiene, Zivile Maldziene, Ausra Sasnauskiene, Vilmante Zitkute, Laima Ambrozaityte, Tautvydas Rancelis, Algirdas Utkus, Vaidutis Kucinskas, Egle Preiksaitiene
Summary: This study evaluates the clinical significance and consequences of a novel heterozygous intragenic MED13L deletion in a proband with clinical features of a MED13L-related disorder through extensive clinical, molecular, and functional characterisation. The findings suggest that the intragenic deletion resulted in MED13L haploinsufficiency syndrome.
MEDICINA-LITHUANIA
(2023)
Article
Biochemistry & Molecular Biology
Gabriele Zukauskaite, Ingrida Domarkiene, Ausra Matuleviciene, Svetlana Dauengauer-Kirliene, Vaidutis Kucinskas, Laima Ambrozaityte
Summary: Through studying Lithuanian clean-up workers of the Chornobyl nuclear disaster, it has been found that some individuals are more resistant or recover better from health challenges. This may be due to individual genomic features that have been positively selected for better adaptiveness and health. The identification of 22 unique loci under positive selection in the genomes of these workers provides insights into the interaction between ongoing microevolutionary processes, multifactorial traits, and diseases.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Eleni Panagiotakaki, Francesco D. Tiziano, Mohamad A. Mikati, Lisanne S. Vijfhuizen, Sophie Nicole, Gaetan Lesca, Emanuela Abiusi, Agnese Novelli, Lorena Di Pietro, Aster V. E. Harder, Nicole M. Walley, Elisa De Grandis, Anne-Lise Poulat, Vincent Des Portes, Anne Lepine, Marie-Cecile Nassogne, Alexis Arzimanoglou, Rosaria Vavassori, Jan Koenderink, Christopher H. Thompson, Alfred L. George, Fiorella Gurrieri, Arn M. J. M. van den Maagdenberg, Erin L. Heinzen
Summary: This study identified genetic variants in various neurodevelopmental genes, including SCN2A, that lead to AHC or AHC-like presentation in the majority of ATP1A3-negative patients. However, the genetic cause of some patients remains unknown, suggesting the involvement of other mutational mechanisms or oligo- or polygenic risk factors.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)