Genetics in Medicine Open最新文献

{"title":"P010: Genetic testing is incompletely sensitive for treatable inherited metabolic disorders","authors":"Sarah Bick , Monica Wojcik , Robert Green , Nina Gold","doi":"10.1016/j.gimo.2024.100887","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100887","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100887"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000335/pdfft?md5=26acbb0479e88ed27756207116891da2&pid=1-s2.0-S2949774424000335-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P065: The clinical utility of plasma circulating tumor DNA in the diagnosis and disease surveillance in non-DLBCL non-Hodgkin’s lymphomas*","authors":"Minyi Zhu , Xiaotian Zhao , Yao Xiao , Jiaohui Pang , Liuqing Zhu , Ruoying Yu , Qiuxiang Ou","doi":"10.1016/j.gimo.2024.100947","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100947","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100947"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000931/pdfft?md5=bcca1fe076e412db8093ac99dc3c2568&pid=1-s2.0-S2949774424000931-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome","authors":"","doi":"10.1016/j.gimo.2024.101857","DOIUrl":"10.1016/j.gimo.2024.101857","url":null,"abstract":"<div><h3>Purpose</h3><p>Discrepancies exist between the need to lock food away and satiety scores in the Smith-Magenis syndrome (SMS) population. This study sought to uncover food-related behaviors within this unique group of individuals.</p></div><div><h3>Methods</h3><p>Caregivers (<em>N</em> = 24) representing 21 individuals with SMS, recruited from the Parents and Researchers Interested in SMS national meeting and social media platforms, participated in semistructured interviews. Interviews were digitally recorded, transcribed verbatim, coded, and analyzed using hybrid thematic analysis.</p></div><div><h3>Results</h3><p>This study identified a global theme of “Blind to the perils while pursuing their goals,” supported by 5 organizing themes: (1) Biology-impacting behaviors, (2) Need for personalized strategies, (3) Controlling food experiences, (4) Need for parents to orchestrate life, and (5) Surprising resourcefulness. Subthemes within these organizing themes highlighted that individuals with SMS have unique food-related behaviors and often fixate on certain types of foods. Their constant obsession with food for many of them is driven by hunger, obsessive characteristics, a need for autonomy, and a need for fairness. Caregivers must put multiple guardrails in place and remain constantly vigilant to prevent overeating in these individuals.</p></div><div><h3>Conclusion</h3><p>Individuals with SMS often perseverate on food and display unique food-related behaviors. Treating obesity in this population is likely to be ineffective without multicomponent, individualized strategies. Additionally, research in this population will likely require targeted instruments for the SMS population to more clearly define the underlying etiologies and to track changes over time in therapeutic trials.</p></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101857"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424010033/pdfft?md5=504372893ffa66c41d6839c08769a058&pid=1-s2.0-S2949774424010033-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141407373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Casgevy (exagamglogene autotemcel) and Lyfgenia (lovotibeglogene autotemcel) for individuals 12 years and older with sickle cell disease (SCD) and recurrent vaso-occlusive crises (VOC): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)","authors":"Harry Lesmana ,&nbsp;Sun Young Kim ,&nbsp;Andrés Morales Corado ,&nbsp;Sheri A. Poskanzer ,&nbsp;ACMG Therapeutics Committee","doi":"10.1016/j.gimo.2024.101875","DOIUrl":"10.1016/j.gimo.2024.101875","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101875"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11736165/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Developing medical genetics in a low-income country: Unveiling the journey of the Pakistani Society of Medical Genetics and Genomics (PSMG)","authors":"Aisha Furqan ,&nbsp;Syed A. Ahmed ,&nbsp;Rizwan Naeem ,&nbsp;Myla Ashfaq","doi":"10.1016/j.gimo.2024.101883","DOIUrl":"10.1016/j.gimo.2024.101883","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101883"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11658544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142879388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Workshop report: Clinical training and integration of genetic counselors into interprofessional teams in the German-speaking countries","authors":"Gunda Schwaninger ,&nbsp;Kathrin Taxer ,&nbsp;Sabrina Marti ,&nbsp;Simona Cionca ,&nbsp;Petra Freilinger ,&nbsp;Corinne Gemperle ,&nbsp;Anna Kalantidou ,&nbsp;Heidi Stöhr ,&nbsp;Sina Ramcke ,&nbsp;Christina Wölwer ,&nbsp;Sabine Rudnik-Schöneborn ,&nbsp;Johannes Zschocke","doi":"10.1016/j.gimo.2024.101855","DOIUrl":"10.1016/j.gimo.2024.101855","url":null,"abstract":"<div><div>In spring 2022, the inaugural cohort of Genetic and Genomic Counseling MSc students graduated from the Medical University of Innsbruck, representing a significant milestone for the establishment of the genetic counselor (GC) profession in the German-speaking countries. A pivotal component of their education was a 15-week clinical training period. The placement experiences of both students and supervisors offered valuable insights into the attitudes of medical geneticists toward the profession. To share the knowledge gained by these pioneers and offer guidance to potential placement institutions, the MSc program team organized an online workshop on the education and training of GCs in German-speaking countries in October 2022. The first part of the workshop focused on the training program and professional profile of GCs in the German-speaking countries. It covered educational aspects, such as the structure of the MSc degree program and specific communication training. Additionally, it addressed challenges arising from the integration of GCs into existing genetics centers. The second part of the workshop delved into first-hand experiences of genetic counseling students and placement providers during clinical training. Featuring insights from supervisors, this session facilitated a discussion about the roles of GCs within interprofessional genetics teams. The workshop participants agreed on a growing demand for GCs and highlighted positive experiences, as well as challenges within participating institutes that had hosted a student. In this article we summarize suggestions for the education and training of GCs in the German-speaking countries where the profession is newly established.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101855"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11658553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142879446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports","authors":"","doi":"10.1016/j.gimo.2024.101853","DOIUrl":"10.1016/j.gimo.2024.101853","url":null,"abstract":"<div><h3>Purpose</h3><p>Molybdenum cofactor deficiency (MoCD) classically presents shortly after birth, with neurological symptoms ascribed to postnatal toxicity of accumulating sulphite. Case reports suggest that cerebral damage associated with MoCD may have a prenatal onset.</p></div><div><h3>Methods</h3><p>A meta-analysis of case reports was performed on individuals with genetically proven MoCD retrieved through a systematic review and in-house search. Cases were categorized as classical or late-onset, based on the time of onset of symptoms. Available cerebral images were scored for the presence of restricted diffusion, pathological signal, subcortical cysts, and atrophy. Estimated onset of each event and the minimal number of events needed to explain the observed imaging abnormalities were deduced by combining age at imaging, type of imaging abnormality, and known natural evolution of the imaging abnormalities.</p></div><div><h3>Results</h3><p>Of a total of 30 retrieved cases, 21 were classical. Prenatal origin of damage was possible in all classical cases and certain in 11 of 21 (52%). Multiple events were deduced in 5/21 classical cases based on imaging data alone and in 11 of 21 cases when presuming that a postnatal onset of symptoms signifies a recent event. Multiple, but postnatal, events were also described in 3 of 9 late-onset cases.</p></div><div><h3>Conclusion</h3><p>Prenatal onset of cerebral damage in patients with classical MoCD is more frequently encountered than anticipated. It may have been overlooked by the overwhelming postnatal symptoms erroneously pointing to a single culprit. This insight is important when counseling for prognosis, particularly in the context of considering the timing and anticipated prospects of therapeutic intervention.</p></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101853"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424009993/pdfft?md5=0f17e3b1dc110c19d0c6288f6d49db69&pid=1-s2.0-S2949774424009993-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141133404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ARID1B-related disorder in 87 adults: Natural history and self-sustainability","authors":"P.J. van der Sluijs ,&nbsp;M. Gösgens ,&nbsp;A.J.M. Dingemans ,&nbsp;P. Striano ,&nbsp;A. Riva ,&nbsp;C. Mignot ,&nbsp;A. Faudet ,&nbsp;G. Vasileiou ,&nbsp;M. Walther ,&nbsp;S.A. Schrier Vergano ,&nbsp;M. Alders ,&nbsp;F.S. Alkuraya ,&nbsp;I. Alorainy ,&nbsp;H.S. Alsaif ,&nbsp;B. Anderlid ,&nbsp;I. Bache ,&nbsp;I. van Beek ,&nbsp;M. Blanluet ,&nbsp;B.W. van Bon ,&nbsp;T. Brunet ,&nbsp;G.W.E. Santen","doi":"10.1016/j.gimo.2024.101873","DOIUrl":"10.1016/j.gimo.2024.101873","url":null,"abstract":"<div><h3>Purpose</h3><p><em>ARID1B</em> is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with <em>ARID1B</em>-related disorder have been described, which limits our understanding of the disease’s natural history and our ability to counsel patients and their families.</p></div><div><h3>Methods</h3><p>Data on patients aged 18+ years with <em>ARID1B</em>-related disorder were collected through an online questionnaire completed by clinicians and parents.</p></div><div><h3>Results</h3><p>Eighty-seven adult patients with <em>ARID1B</em> were included. Cognitive functioning ranged from borderline to severe intellectual disability. Patients identified through the genetic workup of their child were either mosaic or had a variant in exon 1. New clinical features identified in this population are loss of skill (16/64, 25%) and recurrent patella luxation (12/45, 32%). Self-sustainability data showed that 88% (45/51) could eat independently, and 16% (7/45) could travel alone by public transport. Facial photo analysis showed that patients’ photographs taken at different ages clustered consistently, separate from matched controls.</p></div><div><h3>Conclusion</h3><p>The <em>ARID1B</em> spectrum is broad, and as patients age, there is a significant shift in the medical aspects requiring attention. To address the changing medical needs with increasing age, we have formulated recommendations to promote timely intervention in an attempt to mitigate disease progression.</p></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101873"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424010197/pdfft?md5=c56777bbe6792086373b4e47afb23a14&pid=1-s2.0-S2949774424010197-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141844982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased frequency of CHEK2 germline pathogenic variants among individuals with dermatofibrosarcoma protuberans","authors":"Michael R. Sargen ,&nbsp;Jung Kim ,&nbsp;Jeremy S. Haley ,&nbsp;Hayley P. Barker ,&nbsp;Piyushkumar A. Mundra ,&nbsp;Mandy L. Ballinger ,&nbsp;David M. Thomas ,&nbsp;David J. Carey ,&nbsp;Alisa M. Goldstein ,&nbsp;Douglas R. Stewart","doi":"10.1016/j.gimo.2024.101895","DOIUrl":"10.1016/j.gimo.2024.101895","url":null,"abstract":"<div><h3>Purpose</h3><div>To identify candidate susceptibility genes for dermatofibrosarcoma protuberans (DFSP).</div></div><div><h3>Methods</h3><div>All individuals with DFSP from the International Sarcoma Kindred Study (<em>n</em> = 3767 individuals with sarcoma diagnoses from Australia, Europe, New Zealand, and United States) and cohorts that were not ascertained based on sarcoma status or other phenotypes (Geisinger MyCode, <em>n</em> = 170,503 individuals, United States; UK Biobank, <em>n</em> = 469,789 individuals, United Kingdom) were evaluated for germline pathogenic or likely pathogenic (P/LP) variants in 156 cancer genes.</div></div><div><h3>Results</h3><div>There were 92 unrelated individuals with DFSP across the 3 cohorts. The mean age at diagnosis (standard deviation) in the International Sarcoma Kindred Study, Geisinger, and UK Biobank was 40.8 (14.5), 50.3 (9.4), and 49.4 (13.2) years, respectively. Germline P/LP variants were most common in the <em>CHEK2</em> gene (4/92 [4.3%]). <em>CHEK2-</em>related cases were often associated with early onset disease (age at diagnosis: 30-39 years) and were observed in all 3 cohorts. Among 640,292 individuals in Geisinger and UK Biobank who were not ascertained based on phenotype, there was a significantly increased frequency of <em>CHEK2</em> P/LP variants among individuals with DFSP (<em>n</em> = 3/65 [4.6%]) compared to those without (<em>n</em> = 6388/640,227 [1.0%]) (Fisher exact, <em>P</em> = .03). Additional genes with P/LP variation (1 case for each gene) included <em>ACD, ERCC5, ERCC1, DOCK8, GBA1, ATM, MUTYH, TP53, RECQL4,</em> and <em>COL7A1</em>.</div></div><div><h3>Conclusion</h3><div>This study of multiple cohorts identifies <em>CHEK2</em> as a candidate susceptibility gene for DFSP. Additional epidemiologic and functional studies are needed to further characterize this potential gene-tumor relationship.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101895"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142578751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8","authors":"Maryse Gagnon ,&nbsp;Nadia Bouhamdani ,&nbsp;Dimiter P. Kolev ,&nbsp;S. Hussain Askree ,&nbsp;Mouna Ben Amor","doi":"10.1016/j.gimo.2024.101893","DOIUrl":"10.1016/j.gimo.2024.101893","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101893"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142553831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}