Article
Genetics & Heredity
Monica H. Wojcik, Maya C. del Rosario, Pankaj B. Agrawal
Summary: A survey of neonatologists across the United States revealed that while most acknowledge the importance of genetic testing for their patients, availability of genetic consultations and exome or genome sequencing in NICUs is not always adequate.
GENETICS IN MEDICINE
(2022)
Article
Public, Environmental & Occupational Health
Rebecca Dimond, Shane Doheny, Lisa Ballard, Angus Clarke
Summary: This article explores the importance of family in the experience of genetic testing, arguing that understanding individuals' experiences of genetic diseases and their responses to genetic technologies requires considering the context in which they occur. By analyzing relevant literature and conducting interviews, the article finds that family plays a significant role in disclosure, gatekeeping, communication, and other aspects of individuals' genetic testing experiences. Lastly, the article examines the entanglement of family and genetics as a way to explain their complex connections.
SOCIAL SCIENCE & MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Steffany Grondin, Brianna Davies, Julia Cadrin-Tourigny, Christian Steinberg, Christopher C. Cheung, Paloma Jorda, Jeffrey S. Healey, Martin S. Green, Shubhayan Sanatani, Wael Alqarawi, Paul Angaran, Laura Arbour, Pavel Antiperovitch, Habib Khan, Richard Leather, Peter G. Guerra, Lena Rivard, Christopher S. Simpson, Martin Gardner, Ciorsti MacIntyre, Colette Seifer, Anne Fournier, Jacqueline Joza, Michael H. Gollob, Guillaume Lettre, Mario Talajic, Zachary W. Laksman, Jason D. Roberts, Andrew D. Krahn, Rafik Tadros
Summary: Genetic testing identifies disease-causing variants in 10% of survivors of cardiac arrest. The majority of these variants are located in genes associated with cardiomyopathy, highlighting their arrhythmogenic potential in the absence of an overt cardiomyopathy diagnosis. This study supports the use of genetic testing, including assessment of arrhythmia and cardiomyopathy genes, in survivors of cardiac arrest.
EUROPEAN HEART JOURNAL
(2022)
Review
Medicine, Research & Experimental
Mary A. Majumder, Christi J. Guerrini, Amy L. McGuire
Summary: This review discusses the trends in direct-to-consumer genetic testing, including quality, psychosocial impact, integration with medical practice, effects on the healthcare system, privacy issues, and third-party interpretation services and non-health-related uses. It presents two possible futures for DTC genetic testing: merger with traditional healthcare delivery or continuation as an independent system.
ANNUAL REVIEW OF MEDICINE, VOL 72, 2021
(2021)
Article
Pediatrics
Zena Lam, Kathryn Johnson, Rosalyn Jewell
Summary: This study retrospectively reviewed patients referred to a regional genetics service in Yorkshire to consider a diagnosis of foetal alcohol spectrum disorder. Among 110 patients included, the diagnostic rate for contributing genetic disorders was 3.6%, with all diagnoses being chromosomal disorders and chromosome copy number variants.
ARCHIVES OF DISEASE IN CHILDHOOD
(2021)
Article
Critical Care Medicine
Chad A. Newton, Justin M. Oldham, Carolyn Applegate, Nikkola Carmichael, Karen Powell, Dan Dilling, Shelley L. Schmidt, Mary Beth Scholand, Mary Armanios, Christine Kim Garcia, Jonathan A. Kropski, Janet Talbert
Summary: Patients with familial pulmonary fibrosis have inherited gene variation that predisposes them to the disease, and genetic testing can provide personalized assessment, recognition of clinically relevant manifestations, and evaluation of susceptibility in unaffected relatives. However, the current use of genetic testing lacks consistency and guidance on high-yield scenarios.
Article
Medicine, General & Internal
Elaine Chen, Flavia M. Facio, Kerry W. Aradhya, Susan Rojahn, Kathryn E. Hatchell, Sienna Aguilar, Karen Ouyang, Sulagna Saitta, Andrea K. Hanson-Kwan, Nicole Nakousi Capurro, Eriko Takamine, Saumya Shekhar Jamuar, Dianalee McKnight, Britt Johnson, Swaroop Aradhya
Summary: This cohort study investigated nearly 1.6 million individuals and emphasized the need for improved methods of interpreting missense variants, increased availability of clinical and experimental evidence for variant classification, and more diverse representation of race, ethnicity, and ancestry groups in genomic databases. The data from this study can provide a solid foundation for understanding the sources and resolution of variants of uncertain significance (VUSs) and guiding appropriate next steps in patient care.
Review
Biochemistry & Molecular Biology
Jiri Bonaventura, Eva Polakova, Veronika Vejtasova, Josef Veselka
Summary: Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with complex genetic basis involving mutations in multiple genes. Patients without pathogenic variants are now believed to have non-Mendelian HCM and may have a better prognosis. Identifying the genetic basis of HCM provides opportunities for understanding disease development and potential interventions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Kirsten Bartels, Samantha Afonso, Lindsay Brown, Claudia Carriles, Raymond Kim, Joanna Lazier, Saadet Mercimek-Andrews, Tanya N. Nelson, Ian Stedman, Emily Thain, Rachel Vanneste, Lauren Chad
Summary: Sponsored genetic testing provides a simplified access to genetic testing for patients and healthcare practitioners, but it raises ethical and legal considerations as well as differences in publicly funded healthcare systems. Further research and dialogue are needed to provide comprehensive considerations.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Cardiac & Cardiovascular Systems
F. Girolami, V. Spinelli, S. Passantino, E. Bennati, G. B. Calabri, I. Olivotto, S. Favilli
Summary: Pediatric cardiomyopathies exhibit significant phenotypic and genetic heterogeneity, and genetic testing plays a key role in diagnosis and treatment.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2021)
Article
Clinical Neurology
Rachel Saunders-Pullman, Deborah Raymond, Roberto A. Ortega, Ali Shalash, Emilia Gatto, Mehri Salari, Maggie Markgraf, Roy N. Alcalay, Deborah Mascalzoni, Niccolo E. Mencacci, Vincenzo Bonifati, Marcelo Merello, Sun Ju Chung, Ivana Novakovic, Soraya Bardien, Gian Pal, Anne Hall, Nobutaka Hattori, Timothy Lynch, Avner Thaler, Carolyn M. Sue, Tatiana Foroud, Jennifer Verbrugge, Jeanine Schulze, Lola Cook, Karen Marder, Oksana Suchowersky, Christine Klein, Tatyana Simuni
Summary: This study aims to determine the international landscape of genetic testing in Parkinson's disease (PD) and provide information for future global recommendations. The survey found common barriers such as cost and access to genetic testing and counseling, as well as the need for education on genetic counseling. Region-dependent differences were most notable in Africa, while high-income countries showed heterogeneity, with European nations more likely to have genetic testing covered through insurance than Pan-American and Asian countries. In conclusion, improving education and access to genetic counseling and testing for PD worldwide is highly needed.
MOVEMENT DISORDERS
(2023)
Article
Genetics & Heredity
Courtney Berrios, Emily A. Hurley, Laurel Willig, Isabelle Thiffault, Carol Saunders, Tomi Pastinen, Kathy Goggin, Emily Farrow
Summary: Efforts have been made to standardize laboratory variant interpretation, but clinicians exhibit varying behaviors in reviewing and returning genetic test results based on factors such as confidence, role perception, practice setting, and relationship with the lab. Medical impactful differences in interpretation between laboratories and clinicians were found in 13.8% of cases, highlighting the potential impact on patient care. Efforts to better incorporate both laboratory and clinician expertise into interpretation of genetic results could improve patient care across providers and settings.
GENETICS IN MEDICINE
(2021)
Review
Geriatrics & Gerontology
Aamira J. Huq, Adrienne Sexton, Paul Lacaze, Colin L. Masters, Elsdon Storey, Dennis Velakoulis, Paul A. James, Ingrid M. Winship
Summary: This review provides guidance on the genetics of dementia, highlighting that younger patients and those with a strong family history are more likely to have genetic dementia. The article also discusses common genetic syndromes, genetic technologies, and genetic counseling issues in dementia.
INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY
(2021)
Review
Biology
Shyamalika Gopalan, Samuel Pattillo Smith, Katharine Korunes, Iman Hamid, Sohini Ramachandran, Amy Goldberg
Summary: Geneticists have made significant progress in understanding human genetic diversity, particularly in the field of admixture population genetics. Admixture is an important evolutionary process that affects genetic variation and evolution between populations. Overcoming limitations in studying admixed populations using traditional methods, researchers have leveraged genomic signatures to gain insights into human history, natural selection, and complex trait architecture.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2022)
Article
Medicine, Research & Experimental
Kara D. Brodie, Elizabeth N. Liao, Michelle M. Florentine, Dylan K. Chan
Summary: This study evaluates the association between genetic diagnoses and hearing loss intervention. The results show that children diagnosed with a genetic diagnosis are significantly more likely to subsequently utilize hearing aids or cochlear implantation. This provides additional support for the importance of genetic testing in the evaluation and treatment of sensorineural hearing loss.
Review
Genetics & Heredity
Carrie L. Blout Zawatsky, David Bick, Louise Bier, Birgit Funke, Matthew Lebo, Katie L. Lewis, Ekaterina Orlova, Emily Qian, Lauren Ryan, Marci L. B. Schwartz, Emily R. Soper
Summary: Genetic counseling for elective genomic testing (EGT) is becoming more common, which has the potential to detect genetic conditions before significant health impact. Pre- and post-test counseling for EGT require complete family and medical history, but there are special considerations due to uncertainties and lack of guidelines. This practice resource aims to provide guidance for genetic counselors and healthcare providers caring for adults seeking EGT counseling.
JOURNAL OF GENETIC COUNSELING
(2023)
Article
Biochemistry & Molecular Biology
Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogne, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stephanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Benedicte Gerard, Marie-Therese Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M. Bain, Tristan T. Sands, Golder N. Wilson, Erin J. Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H. Willemsen, Charlotte W. Ockeloen, Rolph Pfundt, Sanne D. Kroft, Michael Field, Francisco E. R. Laranjeira, Ana M. Fortuna, Ana R. Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D. Weaver, Lynne M. Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Polsler, Philippe M. Campeau, Maria Blazo, Emilia K. Bijlsma, Jill A. Rosenfeld, Christian Beetz, Zoe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikael Mathot, Shekeeb S. Mohammad, Ruth Armstrong, Vera M. Kalscheuer
Summary: Missense and truncating variants in the X-chromosome-linked CLCN4 gene were found to cause neurocognitive phenotype. A database of 90 rare CLCN4 missense variants in 90 families was established, revealing new pathophysiological mechanisms and the complexity of pathogenicity assessment. The study highlights the importance of genetic counseling and future research directions.
MOLECULAR PSYCHIATRY
(2023)
Article
Psychiatry
Nathan A. Kimbrel, Allison E. Ashley-Koch, Xue J. Qin, Jennifer H. Lindquist, Melanie E. Garrett, Michelle F. Dennis, Lauren P. Hair, Jennifer E. Huffman, Daniel A. Jacobson, Ravi K. Madduri, Jodie A. Trafton, Hilary Coon, Anna R. Docherty, Niamh Mullins, Douglas M. Ruderfer, Philip D. Harvey, Benjamin H. McMahon, David W. Oslin, Jean C. Beckham, Elizabeth R. Hauser, Michael A. Hauser
Summary: This study aimed to identify the genetic basis of suicidal thoughts and behaviors. Through genome-wide association analysis, several risk loci for suicide were identified, and some of these loci were replicated in independent samples, providing evidence for their involvement in suicide.
Article
Genetics & Heredity
Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Vissers E. L. M. Lisenka, Siddharth Banka, Rolph Pfundt, Bert B. A. de Vries, Richard H. van Jaarsveld, Saskia M. J. Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortuem, Francois Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibaek, Eloise J. Prijoles, Roger E. Stevenson, David B. Everman, Wesley G. Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J. Benke, Maria Soledad Lopez Garcia, Renee Perrier, Sergio B. Sousa, Pedro M. Almeida, Maria Jose Simoes, Bertrand Isidor, Wallid Deb, Andrew A. Schmanski, Omar Abdul-Rahman, Christophe Philippe, Ange-Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J. Smits, Livia Garavelli, Stefano G. Caraffi, Francesca Peluso, Laura Davis-Keppen, Dylan Platt, Erin Royer, Lisette Leeuwen, Margje Sinnema, Alexander P. A. Stegmann, Constance T. R. M. Stumpel, George E. Tiller, Danielle G. M. Bosch, Stephanus T. Potgieter, Shelagh Joss, Miranda Splitt, Simon Holden, Matina Prapa, Nicola Foulds, Sofia Douzgou, Kaija Puura, Regina Waltes, Andreas G. Chiocchetti, Christine M. Freitag, F. Kyle Satterstrom, Silvia De Rubeis, Joseph Buxbaum, Bruce D. Gelb, Aleksic Branko, Itaru Kushima, Jennifer Howe, Stephen W. Scherer, Alessia Arado, Chiara Baldo, Olivier Patat, Demeer Benedicte, Diego Lopergolo, Filippo M. Santorelli, Tobias B. Haack, Andreas Dufke, Miriam Bertrand, Ruth J. Falb, Angelika Riess, Peter Krieg, Stephanie Spranger, Maria Francesca Bedeschi, Maria Iascone, Sarah Josephi-Taylor, Tony Roscioli, Michael F. Buckley, Jan Liebelt, Aditi I. Dagli, Emmelien Aten, Anna C. E. Hurst, Alesha Hicks, Mohnish Suri, Ermal Aliu, Sunil Naik, Richard Sidlow, Juliette Coursimault, Gael Nicolas, Hanna Kuepper, Florence Petit, Veyan Ibrahim, Deniz Top, Francesca Di Cara, Raymond J. Louie, Elliot Stolerman, Han G. Brunner, Lisenka E. L. M. Vissers, Jamie M. Kramer, Tjitske Kleefstra
Summary: This study examines the clinical and molecular spectrum of individuals with KDM6B variants and challenges the accuracy of the current description of the disorder. Cognitive deficits are consistently observed, but the overall phenotype varies greatly. The study also demonstrates the disruptive effect of certain KDM6B variants on protein structure and introduces a functional testing paradigm for assessing these variants. The findings highlight the importance of international collaboration and rigorous functional analysis in diagnosing rare disorders.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Ria Schonauer, Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura Alice Devlin, Jill Murrell, Emma C. Bedoukian, Linda Poschla, Elena Hantmann, Korbinian M. Riedhammer, Julia Hoefele, Konrad Platzer, Ronald Biemann, Philipp M. Campeau, Johannes Munch, Henrik Heyne, Anne Hoffmann, Adhideb Ghosh, Wenfei Sun, Hua Dong, Falko Noe, Christian Wolfrum, Emily Woods, Michael J. Parker, Ruxandra Neatu, Gwenael Le Guyader, Ange-Line Bruel, Laurence Perrin, Helena Spiewak, Isabelle Missotte, Melanie Fourgeaud, Vincent Michaud, Didier Lacombe, Sarah A. Paolucci, Jillian G. Buchan, Margaret Glissmeyer, Bernt Popp, Matthias Bluher, John A. Sayer, Jan Halbritter
Summary: Monogenic forms of obesity, characterized by dysregulation of food intake and satiety in the central nervous system, often accompanied by neurodevelopmental delay and autism spectrum disorder, provide insights into the underlying mechanisms of common obesity. A truncating variant in the POU3F2 gene was identified in a family with syndromic obesity, and further research found ultra-rare truncating and missense variants in other individuals with obesity and neurodevelopmental disorders. These variants lead to transcriptional dysregulation associated with hyperphagic obesity and variable neurodevelopmental delay.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee, Li Q. Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L. Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W. Scherer, Nara Sobriera, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C. Murray, Andrew C. Lidral, Azeez Butali, Michael F. Buckley, Tony Roscioli, David A. Koolen, Laurie H. Seaver, Cynthia A. Prows, Rolf W. Stottmann, Timothy C. Cox
Summary: AMOTL1 encodes angiomotin-like protein 1, a protein that regulates cell polarity, adhesion, and migration. Variants in AMOTL1 are associated with orofacial clefting, congenital heart disease, tall stature, auricular anomalies, and gastrointestinal manifestations. The study suggests that missense variants in AMOTL1, particularly in the region affecting amino acids 157-161, define a new orofacial clefting syndrome and highlight the importance of this region in its function.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Biochemistry & Molecular Biology
Claudia I. Samogy Costa, Gabriele da Silva Campos, Eduarda Morgana da Silva Montenegro, Jaqueline Yu Ting Wang, Marilia Scliar, Frederico Monfardini, Elaine Cristina Zachi, Naila C. V. Lourenco, Ada J. S. Chan, Sergio L. Pereira, Worrawat Engchuan, Bhooma Thiruvahindrapuram, Mehdi Zarrei, Stephen W. Scherer, Maria Rita Passos-Bueno
Summary: De novo variants (DNVs) analysis has been shown to be a powerful method for gene discovery in Autism Spectrum Disorder (ASD), but it has not been proven in a Brazilian ASD cohort. This study aimed to investigate the relevance of de novo and inherited variants through three-generation analysis of DNVs. Whole-exome sequencing was performed on 33 septet families, and the DNV rates (DNVr) were compared between generations and control cohorts. The results showed a marginally higher DNVr in probands compared to parents and controls, and most DNVs were found to have paternal origin in both generations. Additionally, several DNVs in parents were identified as ASD candidate genes. These findings further highlight the importance of DNVs in ASD.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Editorial Material
Genetics & Heredity
Jacob A. S. Vorstman, Stephen W. Scherer
GENETICS IN MEDICINE
(2023)
Article
Genetics & Heredity
Salma Shickh, Agnes H. Sebastian, Marc Clausen, Chloe Mighton, Christine F. Elser, Andrea Eisen, Larissa Waldman, Seema Panchal, Thomas Ward, June E. Carroll, Emily Glogowski, Kasmintan Schrader, Jordan A. Lerner-Ellis, Raymond Kim, Kevin E. Thorpe, Yvonne Bombard
Summary: This study aimed to understand patient preferences and factors influencing preferences for secondary findings from genomic sequencing. The majority of adult cancer patients in the trial expressed interest in receiving various types of secondary findings, even those without immediate medical actionability. Older participants were more interested in early-onset neurological diseases, and those with lower decisional conflict were more likely to select all categories. The results emphasize the importance of incorporating patient preferences into guidelines on secondary findings.
Article
Genetics & Heredity
Ricardo Di Lazzaro Filho, Guilherme Lopes Yamamoto, Tiago J. Silva, Leticia A. Rocha, Bianca D. W. Linnenkamp, Matheus Augusto Araujo Castro, Deborah Bartholdi, Andre Schaller, Tosso Leeb, Samantha Kelmann, Claudia Y. Utagawa, Carlos E. Steiner, Leandra Steinmetz, Rachel Sayuri Honjo, Chong Ae Kim, Lisa Wang, Raphael Abourjaili-Bilodeau, Philippe Campeau, Matthew Warman, Maria Rita Passos-Bueno, Nicolas C. Hoch, Debora Romeo Bertola
Summary: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterized by poikiloderma. We reported on six Brazilian probands and two siblings of Swiss/Portuguese ancestry with severe short stature, widespread poikiloderma, and congenital ocular anomalies. Genomic and functional analysis revealed compound heterozygosity for a deep intronic splicing variant in trans with loss of function variants in DNA2, expanding the phenotypical spectrum of DNA2 mutations.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Niels Vos, Jack Reilly, Mariet W. Elting, Philippe M. Campeau, David Coman, Zornitza Stark, Tiong Yang Tan, David J. Amor, Simran Kaur, Miya StJohn, Angela T. Morgan, Benjamin A. Kamien, Chirag Patel, Matthew L. Tedder, Giuseppe Merla, Paolo Prontera, Marco Castori, Kai Muru, Felicity Collins, John Christodoulou, Janine Smith, Bruria Ben Zeev, Alessandra Murgia, Emanuela Leonardi, Natacha Esber, Antonio Martinez-Monseny, Didac Casas-Alba, Matthew Wallis, Marcel Mannens, Michael A. Levy, Raissa Relator, Marielle Alders, Bekim Sadikovic
Summary: Accurate diagnosis of neurodevelopmental disorders is challenging due to ambiguous findings and lack of specificity in genetic variants. Genome-wide DNA methylation analysis has been used to develop sensitive and specific biomarkers, called 'episignatures', for differentiating and classifying these disorders. This study describes distinct episignatures for KAT6A syndrome and two other neurodevelopmental disorders associated with KAT6B, showing the ability to effectively identify and diagnose these conditions by differentiating highly overlapping episignatures.
Article
Biochemistry & Molecular Biology
Henry Oppermann, Elia Marcos-Graneda, Linnea A. Weiss, Christina A. Gurnett, Anne Marie Jelsig, Susanne H. Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T. Pagnamenta, Simone Race, Siddharth Srivastava, Zoe Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M. Reis, Elena V. Semina, Miriam S. Reuter, Stephen W. Scherer, Maria Iascone, Denisa Weis, Christina R. Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B. Haack, Despoina C. Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R. Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M. Krawitz, Johannes R. Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tumer, Konrad Platzer
Summary: This study describes the clinical presentation in an extended cohort and investigates the molecular mechanism in a Cux1(+/-) mouse model. Disease-causing CUX1 variants result in a non-syndromic phenotype of developmental delay and intellectual disability. In some individuals, this phenotype improves with age, resulting in a clinical catch-up and normal IQ in adulthood.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Elisabeth Bosch, Bernt Popp, Esther Guese, Cindy Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Oezlem Baysal, Dewi Hartwich, Laura Holthoefer, Bertrand Isidor, Benjamin Cogne, Dagmar Wieczorek, Valeria Capra, Marcello Scala, Patrizia De Marco, Marzia Ognibene, Rami Abou Jamra, Konrad Platzer, Lauren B. Carter, Outi Kuismin, Arie van Haeringen, Reza Maroofian, Irene Valenzuela, Ivon Cusco, Julian A. Martinez-Agosto, Ahna M. Rabani, Heather C. Mefford, Elaine M. Pereira, Charlotte Close, Kwame Anyane-Yeboa, Mallory Wagner, Mark C. Hannibal, Pia Zacher, Isabelle Thiffault, Gea Beunders, Muhammad Umair, Priya T. Bhola, Erin Mcginnis, John Millichap, Jiddeke M. van de Kamp, Eloise J. Prijoles, Amy Dobson, Amelle Shillington, Brett H. Graham, Evan-Jacob Garcia, Maureen Kelly Galindo, Fabienne G. Ropers, Esther A. R. Nibbeling, Gail Hubbard, Catherine Karimov, Guido Goj, Renee Bend, Julie Rath, Michelle M. Morrow, Francisca Millan, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Mitja Kurki, Roger E. Stevenson, Gijs W. E. Santen, Markus Zweier, Philippe M. Campeau, Mariasavina Severino, Andre Reis, Andrea Accogli, Georgia Vasileiou
Summary: This study improved the classification of SMARCC2 variants and identified distinguishable SMARCC2-associated phenotypes for LGD and non-truncating variants. These phenotypes are distinct from other BAFopathies, suggesting different pathomechanisms.
GENETICS IN MEDICINE
(2023)
Article
Biology
Miriam S. Reuter, Dustin J. Sokolowski, J. Javier Diaz-Mejia, Johannes Keunen, Barbra de Vrijer, Cadia Chan, Liangxi Wang, Greg Ryan, David A. Chiasson, Troy Ketela, Stephen W. Scherer, Michael D. Wilson, Edgar Jaeggi, Rajiv R. Chaturvedi
Summary: Low blood flow through the fetal left heart can lead to hypoplastic left heart syndrome (HLHS). In this study, mid-gestation fetal lambs were used to create left ventricular inflow obstruction (LVIO) to investigate the effects of decreased left heart flow. The results showed that significant LVIO led to clinical features similar to HLHS, including decreased aortic valve flow, retrograde perfusion, severe left heart hypoplasia, and changes in cellular composition and gene expression consistent with fibrosis and abnormal mesenchymal programs.
COMMUNICATIONS BIOLOGY
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Michael Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Aidin Foroutan, Sadegheh Haghshenas, Jack Reilly, Kathleen Rooney, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer Lee, Marcel Mannens, Tony Roscioli, Victoria Siu, David Amor, Gareth Baynam, Eric Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill Fahrner, Mark Fleming, David Genevieve, Kristin Kristin D. Kerrnohan, Alisdair McNeill, Leonie Menke, Laurence Faivre, Giuseppe Merla, Paolo Prontera, Cheryl Rockman, Charles Schwartz, Steven Skinner, Roger Stevenson, Barb DuPont, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew Tedder, Bekim Sadikovic
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)