Review
Clinical Neurology
Philippe A. Salles, Ignacio F. Mata, Tobias Bruenger, Dennis Lal, Hubert H. Fernandez
Summary: The Na+/K+ ATPases are a critical part of cell membrane function, with the ATP1A3 gene encoding the α 3 isoform which is associated with neurological disorders. Pathogenic variants in this gene can lead to a range of symptoms, often presenting with acute onset and triggered episodes by fever or other factors.
FRONTIERS IN NEUROLOGY
(2021)
Article
Medicine, General & Internal
Hwa-Sung Rim, Myung-Gu Kim, Dong-Choon Park, Sung-Soo Kim, Dae-Woong Kang, Sang-Hoon Kim, Seung-Geun Yeo
Summary: The study revealed a close relationship between metabolic syndrome and hearing loss, with the number of components of metabolic syndrome positively correlated with the rate of sensorineural hearing loss.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Geriatrics & Gerontology
Jin-Chao Hua, Xiao-Min Xu, Zhen-Gui Xu, Yuan Xue, Jin-Jing Xu, Jing-Hua Hu, Yuanqing Wu, Yu-Chen Chen
Summary: Research reveals that there are differences in cerebellar network patterns between sudden sensorineural hearing loss (SSNHL) and long-term sensorineural hearing loss (LSNHL), with the SSNHL group showing features related to cognitive control and emotion processing. Additionally, connections in the right cerebellum are negatively correlated with anxiety and depression scores.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Romina Romaniello, Ludovica Pasca, Elena Panzeri, Fulvio D'Abrusco, Lorena Travaglini, Valentina Serpieri, Sabrina Signorini, Chiara Aiello, Enrico Bertini, Maria Teresa Bassi, Enza Maria Valente, Ginevra Zanni, Renato Borgatti, Filippo Arrigoni
Summary: Pathogenic variants in the ITPR1 gene are associated with autosomal dominant spinocerebellar ataxia. Superior vermian and hemispheric cerebellar atrophy on MRI can be a distinguishing feature of ITPR1-related disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, Research & Experimental
Kara D. Brodie, Anthony T. Moore, Anne M. Slavotinek, Anna K. Meyer, Garani S. Nadaraja, David E. Conrad, Jacqueline E. Weinstein, Dylan K. Chan
Summary: HLGPT is increasingly used as a first-line test for determining the cause of SNHL in children. This study found that 29% of children with clinically non-syndromic SNHL had previously unidentified retinal abnormalities consistent with inherited retinal degeneration. Early genetic testing allows for early identification of Usher syndrome variants, informing genetic counseling and interventions.
Review
Rheumatology
Vasileios Paraschou, Styliani Partalidou, Pavlos Siolos, Zoi Papadopoulou, Nikolaos Chaitidis
Summary: Hearing loss, particularly sensorineural hearing loss, is highly prevalent in patients with Sjogren syndrome. Early screening and follow-up using pure tone audiometry are crucial for these patients.
RHEUMATOLOGY INTERNATIONAL
(2023)
Article
Medicine, Research & Experimental
Andrea Simi, Julia Perry, Emma Schindler, Andrea Oza, Minjie Luo, Tiffiney Hartman, Ian D. Krantz, John A. Germiller, Kosuke Kawai, Margaret Kenna
Summary: This study investigated phenotypic presentation and incidence of audiologic progression in pediatric patients with STRC-related hearing loss. Patients had bilateral, symmetric SNHL ranging from mild to moderate-severe at baseline, with approximately 58% showing some degree of progressive HL. The variability of STRC phenotype and possible audiologic progression should be considered in clinical management of pediatric STRC-related SNHL.
Review
Neurosciences
Francis A. M. Manno, Raul Rodriguez-Cruces, Rachit Kumar, J. Tilak Ratnanather, Condon Lau
Summary: Hearing loss, a heterogeneous disorder, is found to impact grey and white matter in nearly every brain region according to MRI studies. Congenital loss decreases grey matter in frontal lobe most, while acquired loss shows significant decreases in both frontal and insula grey matter. Different impacts on hemispheres are observed between congenital and acquired hearing loss.
Review
Medicine, Research & Experimental
Shadi Ahmadmehrabi, Jason Brant, Douglas J. Epstein, Michael J. Ruckenstein, Daniel J. Rader
Summary: The traditional focus in literature and clinical practice on adult-onset hearing loss has been on environmental risk factors, but recent studies have shown increasing evidence of gene-environment interactions playing a role in adult cases of HL. Susceptibility loci for age-related HL have been identified, and genes related to postlingual nonsyndromic HL continue to be discovered through individual reports and genome-wide association studies.
Review
Biochemistry & Molecular Biology
Yuko Okawa, Kenji Ihara
Summary: Sjogren's syndrome is a chronic autoimmune disease that affects the salivary and lachrymal glands. It can be classified into primary and secondary forms, with varying degrees of severity. Sensorineural hearing loss can occur in some cases. This review article provides a comprehensive overview of the pathology, clinical manifestations, inner ear diseases, immunological characteristics, pathophysiology, treatment options, and future directions of Sjogren's syndrome.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, General & Internal
Erum Naz, Ghulam Saqulain, Nazia Mumtaz, Muhammad Naveed Babur
Summary: This study analyzed the prevalence and characteristics of sudden sensorineural hearing loss, revealing that it is more common in males and in the age group of 15-25 years. It is mainly characterized by severe to profound degree of hearing loss, downward sloping audiogram, and is not associated with vertigo or tinnitus.
PAKISTAN JOURNAL OF MEDICAL SCIENCES
(2021)
Article
Multidisciplinary Sciences
Nobuyoshi Tsuzuki, Koichiro Wasano, Naoki Oishi, Ko Hentona, Marie Shimanuki, Takanori Nishiyama, Yoshihiko Hiraga, Seiichi Shinden, Kaoru Ogawa
Summary: The study aimed to investigate the association between idiopathic sudden sensorineural hearing loss (idiopathic SSNHL) and stroke risk in patients, suggesting that circulatory disorders may be a primary cause of severe idiopathic SSNHL in individuals at high risk of stroke. The results indirectly supported the hypothesis by showing a significantly lower rate of vestibular schwannoma (VS) in high-stroke-risk patients with severe hearing loss compared to low-stroke-risk individuals.
SCIENTIFIC REPORTS
(2021)
Article
Environmental Sciences
Chia-Huang Chang, Chun-Ting Lu, Tai-Ling Chen, Wen-Tzu Huang, Pao-Chuan Torng, Chen-Wei Chang, Yu-Chun Chen, Yu-Lin Yu, Yung-Ning Chuang
Summary: This study found an association between exposure to BPA and PBs and sensorineural hearing loss in children through hearing tests, confirming the impact of BPA and PBs on hearing loss in children. Further research needs to be expanded to include cohort designs and nationwide studies to identify causality.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2023)
Article
Dermatology
Sheng-Hsiang Ma, Min-De Ang, Yun-Ting Chang, Ying-Xiu Dai
Summary: The study revealed a significant association between vitiligo and sensorineural hearing loss, supporting the importance of audiologic assessment for early recognition and management of hearing loss in patients with vitiligo.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
(2021)
Review
Engineering, Biomedical
Mustafa Nazir Okur, Hamid R. Djalilian
Summary: Mitochondria are crucial organelles involved in various cellular functions and their dysfunction is implicated in many diseases, especially neurodegenerative disorders. Targeting mitochondrial dysfunction is important in the progression of sensorineural hearing loss.
ANNALS OF BIOMEDICAL ENGINEERING
(2022)
Article
Health Care Sciences & Services
Alison M. Elliott, Nick Dragojlovic, Teresa Campbell, Shelin Adam, Christele du Souich, Michele Fryer, Anna Lehman, Clara van Karnebeek, Larry D. Lynd, Jan M. Friedman
Summary: Genome-wide sequencing is revolutionizing the care of pediatric patients with rare diseases, with genetic counselling recommended for families undergoing this procedure. Telehealth has enabled access to genome-wide sequencing for families in remote areas, but has led to delays in sample accrual.
JOURNAL OF TELEMEDICINE AND TELECARE
(2023)
Article
Biotechnology & Applied Microbiology
Rahul Arora, Logan Haynes, Mehul Kumar, Reid McNeil, Jahanshah Ashkani, Steven C. Nakoneshny, T. Wayne Matthews, Shamir Chandarana, Robert D. Hart, Steven J. M. Jones, Joseph C. Dort, Doha Itani, Ayan Chanda, Pinaki Bose
Summary: There is a lack of prognostic biomarkers and targeted therapeutics for oral squamous cell carcinoma (OSCC). However, amplification of the chromosomal segment 3q22-3q29 is observed in many epithelial cancers, including OSCC. Through an integrative analysis, we identified NCBP2 and TFRC as potential prognostic biomarkers for HPV-negative OSCC, and showed that NCBP2 depletion can inhibit OSCC cell proliferation, migration, and invasion.
CANCER GENE THERAPY
(2023)
Article
Genetics & Heredity
Stephanie Luca, Marc Clausen, Angela Shaw, Whiwon Lee, Suvetha Krishnapillai, Ella Adi-Wauran, Hanna R. Faghfoury, Gregory Costain, Rebekah Jobling, Melyssa Aronson, Eriskay Liston, Josh Silver, Cheryl Shuman, Lauren Chad, Robin Hayeems, Yvonne J. Bombard, Genetics Navigator Study Team
Summary: This study investigated the preferences of individuals who underwent genetic testing for using chatbots. It found that chatbots were considered inefficient for very simple and very complex tasks, but acceptable for moderately complex tasks. Participants also expressed the need for a safety net (access to a clinician) for unaddressed needs. These findings can inform the implementation of chatbots in genomic medicine.
Editorial Material
Developmental Biology
Jan M. Friedman
BIRTH DEFECTS RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Katherine Dixon, Yaoqing Shen, Kieran O'Neill, Karen L. L. Mungall, Simon Chan, Steve Bilobram, Wei Zhang, Marjorie Bezeau, Alshanee Sharma, Alexandra Fok, Andrew J. J. Mungall, Richard Moore, Ian Bosdet, My Linh Thibodeau, Sophie Sun, Stephen Yip, Kasmintan A. A. Schrader, Steven J. M. Jones
Summary: Nanopore long-read sequencing accurately detects pathogenic copy number alterations in cancer susceptibility genes and reveals unforeseen allelic heterogeneity and mechanisms of recurrent deletions. Integrating read-based and statistical phasing helps define extended haplotypes associated with founder alleles. Long-read sequencing is a sensitive method for characterizing private, recurrent and founder structural variants underlying breast cancer susceptibility.
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
Biochemistry & Molecular Biology
Maria W. A. Teunissen, Elly Lewerissa, Eline J. H. van Hugte, Shan Wang, Charlotte W. Ockeloen, David A. Koolen, Rolph Pfundt, Carlo L. M. Marcelis, Eva Brilstra, Jennifer L. Howe, Stephen W. Scherer, Xavier Le Guillou, Frederic Bilan, Michelle Primiano, Jasmin Roohi, Amelie Piton, Anne de Saint Martin, Sarah Baer, Simone Seiffert, Konrad Platzer, Rami Abou Jamra, Steffen Syrbe, Jan H. Doering, Shenela Lakhani, Srishti Nangia, Christian Gilissen, R. Jeroen Vermeulen, Rob P. W. Rouhl, Han G. Brunner, Marjolein H. Willemsen, Nael Nadif Kasri
Summary: This study aimed to characterize a new neurodevelopmental syndrome caused by loss-of-function variants in ANK2 gene and explore the effects on neuronal network dynamics and homeostatic plasticity in human induced pluripotent stem cell-derived neurons. Clinical and molecular data of 12 individuals with heterozygous de novo loss-of-function variants in ANK2 were collected. HiPSCs with a heterozygous loss-of-function allele of ANK2 were generated using CRISPR/Cas9. Excitatory neurons were differentiated from these hiPSCs and their spontaneous electrophysiological responses were measured using micro-electrode arrays. Results showed a broad neurodevelopmental disorder with intellectual disability, autism spectrum disorders, and early onset epilepsy. HiPSC-derived neurons with ANK2 loss-of-function exhibited a hyperactive and desynchronized neuronal network, increased somatodendritic structures, and altered AIS structure with impaired activity-dependent plasticity.
HUMAN MOLECULAR GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Mehdi Zarrei, Christie L. Burton, Worrawat Engchuan, Edward J. Higginbotham, John Wei, Sabah Shaikh, Nicole M. Roslin, Jeffrey R. MacDonald, Giovanna Pellecchia, Thomas Nalpathamkalam, Sylvia Lamoureux, Roozbeh Manshaei, Jennifer Howe, Brett Trost, Bhooma Thiruvahindrapuram, Christian R. Marshall, Ryan K. C. Yuen, Richard F. Wintle, Lisa J. Strug, Dimitri J. Stavropoulos, Jacob A. S. Vorstman, Paul Arnold, Daniele Merico, Marc Woodbury-Smith, Jennifer Crosbie, Russell J. Schachar, Stephen W. Scherer
Summary: In a Canadian community sample of 7100 unrelated children and youth of European or East Asian ancestry, we found that gene copy number variation (CNV) is associated with mental health/neurodevelopmental traits and diagnoses, physical health, and cognition. Clinically significant or susceptibility CNVs were present in 3.9% of participants and were associated with elevated scores on attention-deficit/hyperactivity disorder (ADHD) traits, longer response inhibition, and increased prevalence of mental health diagnoses, specifically ADHD, autism spectrum disorder, anxiety, and learning problems/learning disorder. Our data also revealed an increased burden of rare deletions in gene-sets related to brain function associated with more ADHD traits. This study provides valuable insights into the genetic contributions to pediatric-onset conditions, especially in the current mental health crisis.
HUMAN MOLECULAR GENETICS
(2023)
Article
Biochemistry & Molecular Biology
E. Titmuss, K. Milne, M. R. Jones, T. Ng, J. T. Topham, S. D. Brown, D. F. Schaeffer, S. Kalloger, D. Wilson, R. D. Corbett, L. M. Williamson, K. Mungall, A. J. Mungall, R. A. Holt, B. H. Nelson, S. J. M. Jones, J. Laskin, H. J. Lim, M. A. Marra
Summary: The POG program at BC Cancer identified specific alterations in colorectal cancer using whole genome and transcriptome analysis, and successfully treated a patient with irbesartan, an antihypertensive drug, resulting in a profound and durable response. Analysis showed an increase in immune signaling and infiltrating immune cells, particularly CD8+ T cells, in the relapsed tumor, suggesting an activated immune response contributed to the anti-tumor effect.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Immunology
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C. W. Jones, Lucia Pacillo, Alyssa E. James, Jill R. Murrell, Selket Delafontaine, Jesmeen Maimaris, Maryam Vaseghi-Shanjani, Kate L. Del Bel, Henry Y. Lu, Gilbert T. Chua, Silvia Di Cesare, Oriol Fornes, Zhongyi Liu, Gigliola Di Matteo, Maggie P. Fu, Donato Amodio, Issan Yee San Tam, Gavin Shueng Wai Chan, Ashish A. Sharma, Joshua Dalmann, Robin van der Lee, Geraldine Blanchard-Rohner, Susan Lin, Quentin Philippot, Phillip A. Richmond, Jessica J. Lee, Allison Matthews, Michael Seear, Alexandra K. Turvey, Rachael L. Philips, Terri F. Brown-Whitehorn, Christopher J. Gray, Kosuke Izumi, James R. Treat, Kathleen H. Wood, Justin Lack, Asya Khleborodova, Julie E. Niemela, Xingtian Yang, Rui Liang, Lin Kui, Christina Sze Man Wong, Grace Wing Kit Poon, Alexander Hoischen, Caspar I. van der Made, Jing Yang, Koon Wing Chan, Jaime Sou Da Rosa Duque, Pamela Pui Wah Lee, Marco Hok Kung Ho, Brian Hon Yin Chung, Huong Thi Minh Le, Wanling Yang, Pejman Rohani, Ali Fouladvand, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Mohammad Miryounesi, Anne Puel, Mohammad Shahrooei, Andrea Finocchi, Paolo Rossi, Beatrice Rivalta, Cristina Cifaldi, Antonio Novelli, Chiara Passarelli, Stefania Arasi, Dominique Bullens, Kate Sauer, Tania Claeys, Catherine M. Biggs, Emma C. Morris, Sergio D. Rosenzweig, John J. O'Shea, Wyeth W. Wasserman, H. Melanie Bedford, Clara D. M. van Karnebeek, Paolo Palma, Siobhan O. Burns, Isabelle Meyts, Jean-Laurent Casanova, Jonathan J. Lyons, Nima Parvaneh, Anh Thi Van Nguyen, Caterina Cancrini, Jennifer Heimall, Hanan Ahmed, Margaret L. McKinnon, Yu Lung Lau, Vivien Beziat, Stuart E. Turvey
Summary: Sharma et al. define a new primary atopic disorder caused by heterozygous gain-of-function variants in STAT6. This leads to severe early-onset allergies in 16 patients from 10 families. Treatment with anti-IL-4Rα antibody and JAK inhibitor is highly effective.
JOURNAL OF EXPERIMENTAL MEDICINE
(2023)
Review
Genetics & Heredity
Rita Kodida, Emma Reble, Marc Clausen, Salma Shickh, Chloe Mighton, Jordan Sam, Nicole Forster, Seema Panchal, Melyssa Aronson, Kara Semotiuk, Tracy Graham, Yael Silberman, Susan Randall Armel, Jeanna M. McCuaig, Iris Cohn, Chantal F. Morel, Christine Elser, Andrea Eisen, June C. Carroll, Emily Glogowski, Kasmintan A. Schrader, Vanessa Di Gioacchino, Jordan Lerner-Ellis, Raymond H. Kim, Yvonne Bombard, Incidental Genom Study Team
Summary: Secondary findings identified through genomic sequencing can provide various health benefits to patients, but resource and capacity constraints pose challenges to their clinical management. Clinical workflows are needed to optimize the benefits of these findings.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Oncology
Hiba K. Omairi, Cameron J. Grisdale, Mathieu Meode, Alexandra K. Bohm, Sophie Black, Nancy J. Adam, Cassidy P. Chapman, Tatiana Maroilley, John J. Kelly, Maja Tarailo-Graovac, Steven J. M. Jones, Michael D. Blough, John Gregory Cairncross
Summary: This study reveals that PDGFA fails to induce the expression of kinetochore and spindle assembly checkpoint genes, leading to defective mitosis in neural progenitor cells (NPCs). Surviving cells with unstable genomes accumulate chromosomal rearrangements and give rise to tumorigenic NPCs with recurrent gains and losses of chromosomal regions. This work provides new insights into the mechanisms underlying the development of glioblastoma.
Article
Clinical Neurology
Alissa M. D'Gama, Sarah Mulhern, Beth R. Sheidley, Fadil Boodhoo, Sarah Buts, Natalie J. Chandler, Joanna Cobb, Meredith Curtis, Edwardj Higginbotham, Jonathon Holland, Tayyaba Khan, Julia Koh, Nicole S. Yliang, Lyndsey Mcrae, Sarah E. Nesbitt, Brandon T. Oby, Ben Paternoster, Alistair Patton, Graham Rose, Elizabeth Scotchman, Rozalia Valentine, Kimberly N. Wiltrout, Robin Z. Hayeems, Puneet Jain, Sebastian Lunke, Christian R. Marshall, Shira Rockowitz, Neilj Sebire, Zornitza Stark, Susan M. White, Lyn S. Chitty, J. Helen Cross, Ingrid E. Scheffer, Vann Chau, Gregory Costain, Annapurna Poduri, Katherine B. Howell, Amy McTague
Summary: A cohort study was conducted to determine the feasibility and clinical utility of rapid genome sequencing in infants with new-onset epilepsy. Among 100 infants enrolled in the study, genetic diagnoses were identified in 43% of the cases. Rapid genome sequencing had immediate clinical impact on treatment, evaluation, prognosis, and recurrence risk counselling.
Correction
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, Thanuja Selvanayagam, 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
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)