American Journal of Medical Genetics Part C: Seminars in Medical Genetics最新文献

{"title":"Table of Contents, Volume 196, Number 2-3, November 2024","authors":"","doi":"10.1002/ajmg.c.32122","DOIUrl":"https://doi.org/10.1002/ajmg.c.32122","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 2-3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32122","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142754118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Different, Not Less","authors":"Samantha A. Schrier Vergano","doi":"10.1002/ajmg.c.32123","DOIUrl":"10.1002/ajmg.c.32123","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 2-3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142611821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"My Journey With Arthrogryposis and Some of the People Who Made a Difference","authors":"Judith G. Hall","doi":"10.1002/ajmg.c.32121","DOIUrl":"10.1002/ajmg.c.32121","url":null,"abstract":"<p>In 1972, I returned from my training to join the faculty and staff at the Children's Hospital in Seattle to establish a Medical Genetics service. A remarkable orthopedist had the far-sighted idea of having an arthrogryposis clinic where all of the specialties came together on the same day, saw 10 to 15 families and then met at the end of the day to share their views. Before that, families would have to go on different days to see different specialists and the specialists never met with each other, although they had access to their different notes. Although such multidisciplinary clinics have become commonplace, this was a revolutionary idea at the time. Given my relative inexperience, I had no idea how revolutionary it was.</p><p>I was just finding my way as a professional. I had three small children and a physician husband—so as I multitasked, I didn't do a lot of reflection. I was just trying to do my new job. I was the medical geneticist in this multidisciplinary clinic who was meant to be sorting out different types of arthrogryposis. The orthopedist also wanted to produce a book for families on the various aspects of arthrogryposis care (Staheli et al. <span>1998</span>). I wasn't at all sure I could contribute a chapter on the genetic aspects of arthrogryposis.</p><p>There were very few women physicians back then. I realize now we were the “Silent Generation” and each generation is different. We were called the silent generation because we just put our heads down and focused on what needed to get done.</p><p>The very first family I saw were monozygotic (MZ) twins where one was affected and the other was not. How could this happen? It seemed unfair and baffling to a geneticist. But it was a harbinger of things to come.</p><p>Subsequently, I have been in touch with that family over the years as the boys grew up. Both were very smart, although the mother always felt the one with arthrogryposis was the smartest and a problem solver. Both went to university and graduate school. Both ending up in academia in the sciences with faculty appointments. Both married and had children. Their mother was persistently curious about how only one MZ twin could possibly have such a disabling disorder requiring so much special care and attention, but do very well spite of it. Also, of course, she worried, as all families do, about recurrence for both boys and future generations. Fortunately, these were unnecessary worries as no one else in the family has been affected and we have come to learn over the years Amyoplasia does not recur in subsequent generations, but does have higher incidence in one of MZ twins (Hall, Aldinger, and Tanaka <span>2014</span>). Mom and the boys continue to ask questions every time we were in touch, and they have stimulated my curiosity about how MZ twinning could be discordant, initiating my lifelong interest in the mysteries of MZ twinning (Hall <span>2021a</span>; Hall <span>2021b</span>). MZ twins with one affected individual,","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 2-3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32121","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142563734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Everyone Is a Tomato: Metagnostic Narratives of Genetic Revelation","authors":"Danielle Spencer","doi":"10.1002/ajmg.c.32118","DOIUrl":"10.1002/ajmg.c.32118","url":null,"abstract":"<div>\u0000 \u0000 <p>This essay explores the narrative characteristics of genetic revelations as instances of “metagnosis.” Contrasting the scientific narrative of increasing knowledge with a series of different stories—including fictional tales—demonstrates the complexity of receiving information that changes one's conception of self, whatever the nature of the revelation. Such narrative awareness can help to communalize such experiences, reducing feelings of isolation and bewilderment.</p>\u0000 </div>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 2-3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142492829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to “Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community”","authors":"","doi":"10.1002/ajmg.c.32120","DOIUrl":"10.1002/ajmg.c.32120","url":null,"abstract":"<p>\u0000 <span>Sobering, AK</span>, <span>Li, D</span>, <span>Beighley, JS</span>, <span>Carey, JC</span>, <span>Donald, T</span>, <span>Elsea, SH</span>, <span>Figueroa, KP</span>, <span>Gerdts, J</span>, <span>Hamlet, A</span>, <span>Mirzaa, GM</span>, <span>Nelson, B</span>, <span>Pulst, SM</span>, <span>Smith, JL</span>, <span>Tassone, F</span>, <span>Toriello, HV</span>, <span>Walker, RH</span>, <span>Yearwood, KR</span>, <span>Bhoj, EJ</span> <span>Experiences With Offering Pro Bono Medical Genetics Services in the West Indies: Benefits to Patients, Physicians, and the Community</span>. <i>American Journal of Medical Genetics Part C</i> <span>2020</span>; <span>184C</span>: <span>1030</span>–<span>1041</span>. https://doi.org/10.1002/ajmg.c.31871\u0000 </p><p>The following statement was omitted from the caption of Figure 1: “Consent for publication of photographs in figure 1 was obtained from the parents of the affected individuals.” This has been added in the online version of the article.</p><p>We apologize for this error.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 2-3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32120","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142492828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pink, White, and Probability","authors":"Chaya N. Murali","doi":"10.1002/ajmg.c.32119","DOIUrl":"10.1002/ajmg.c.32119","url":null,"abstract":"<div>\u0000 \u0000 <p>An early career geneticist confronts the limits of our field when a critically ill infant is diagnosed with an ultra-rare metabolic disorder.</p>\u0000 </div>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 2-3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Family Lore, a Variant of Uncertain Significance, and CADASIL","authors":"Rhys Duarte,&nbsp;Liesbeth Vossaert,&nbsp;Sandra A. Darilek,&nbsp;Chelsi Rose,&nbsp;Evan Schauer,&nbsp;Christian Parobek,&nbsp;Emily Bland,&nbsp;Keren Machol,&nbsp;Elizabeth Mizerik,&nbsp;Chaya N. Murali","doi":"10.1002/ajmg.c.32117","DOIUrl":"10.1002/ajmg.c.32117","url":null,"abstract":"<div>\u0000 \u0000 <p>An infant presents in extremis. After the medical team stabilizes him, the race is on to figure out why he got so sick in the first place. The consulting genetics team thinks that it is unlikely his problems are due to a genetic cause, but his extreme, confounding presentation is enough to justify trio exome sequencing. When the results reveal an unexpected, paternally inherited variant of uncertain significance (VUS) in <i>NOTCH3</i>, fresh questions arise. The infant's presenting symptoms and descriptive diagnoses, including hematemesis, epistaxis, and gastric ulcers, certainly do not fit the mold of CADASIL. However, closer inspection of his family history yields tantalizing clues: a father and paternal grandfather with seizures, and a paternal grandfather with unexplained mood disturbances in middle age. Combining details gleaned from the family history and medical literature, the clinical genetics and laboratory genetics team collaborated, reclassified the VUS as likely pathogenic, and offered a new unifying diagnosis to explain much of the family's lore.</p>\u0000 </div>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 2-3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rorschach Test","authors":"Oana Caluseriu","doi":"10.1002/ajmg.c.32116","DOIUrl":"10.1002/ajmg.c.32116","url":null,"abstract":"<p>Unexpectedly intersecting her path with a person with a congenital anomaly gives the writer an opportunity to reflect on her own understanding of patients outside the medical perimeter that ultimately influences her point of view during the hospital encounter.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 2-3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32116","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Myhre Syndrome Foundation as a global modern support group: The business of rare","authors":"Kate Wears,&nbsp;Angela E. Lin,&nbsp;Lois J. Starr","doi":"10.1002/ajmg.c.32104","DOIUrl":"10.1002/ajmg.c.32104","url":null,"abstract":"<p>Advocacy support groups grow into national and international organizations, but they all begin with personal experiences. As the parents to a newly diagnosed two-year-old son with Myhre syndrome, my husband and I were overwhelmed with the journey ahead. Thanks to networking, primarily through social media, we located other families living with Myhre syndrome and were quickly immersed in the challenges and joy of this community. Myhre syndrome, caused by pathogenic missense variants in <i>SMAD4</i>, is a rare connective tissue disease characterized by short stature, hearing loss, neurodevelopmental challenges, and fibroproliferation. This personal essay, written with physician partners, describes the development of a global advocacy group for patients with Myhre syndrome. I have the honor of serving as the founding Executive Director and reflect proudly on the great strides that our marvelous support group has made. We empower the global community impacted by this rare condition by providing meaningful and accessible data, educational opportunities, and connections with others going through similar experiences. Utilizing the expertise of our Board of Directors and my corporate expertise, we discuss how we have been able to elevate our ultra-rare community into a broader, more comprehensive network.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 4","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening","authors":"Brittany M. Holmes,&nbsp;Suzanne Hollander,&nbsp;Stephanie Sacharow","doi":"10.1002/ajmg.c.32110","DOIUrl":"10.1002/ajmg.c.32110","url":null,"abstract":"<p>Newborn screening for Phenylketonuria (PKU) began in 1963, and since then knowledge and treatment recommendations have evolved. In the decades following newborn screening for PKU, individual and family experiences varied widely. We present narratives by people living with PKU during these years, including individuals actively following in PKU clinic and those who have been out of PKU clinic for many years. These stories describe different individual experiences, including diet discontinuation in childhood, changing treatment guidelines, and new treatments that have become available.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 2-3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32110","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142263455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}