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

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Significance of Variants of Uncertain Significance: The Human Cost of Genetic Uncertainty. 意义不明的变异基因的意义：遗传不确定性的人类代价》。
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-08-31 DOI: 10.1002/ajmg.c.32109
Damla Gonullu-Rotman
{"title":"Significance of Variants of Uncertain Significance: The Human Cost of Genetic Uncertainty.","authors":"Damla Gonullu-Rotman","doi":"10.1002/ajmg.c.32109","DOIUrl":"https://doi.org/10.1002/ajmg.c.32109","url":null,"abstract":"<p><p>This piece narrates the journey of Maria (name of the mother has been altered to protect the family's privacy), a new mother confronting her newborn's unexpected diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, despite undergoing proactive genetic carrier screening within a consanguineous marriage. It highlights the emotional and systemic challenges arising from the lack of diversity in genetic databases, which, in this case, failed to detect pathogenic variants in Maria and her husband. Maria's story sheds light on situations where a masked variant of uncertain significance (VUS) necessitates consultation with a trained genetics specialist and underscores the urgent need for a more equitable healthcare system.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32109"},"PeriodicalIF":2.8,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142103417","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}
引用次数: 0
Circles. 圆圈
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-08-31 DOI: 10.1002/ajmg.c.32105
Victoria Mok Siu, Jennifer Michelle Siu
{"title":"Circles.","authors":"Victoria Mok Siu, Jennifer Michelle Siu","doi":"10.1002/ajmg.c.32105","DOIUrl":"https://doi.org/10.1002/ajmg.c.32105","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32105"},"PeriodicalIF":2.8,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142103416","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}
引用次数: 0
Blonde hair, blue eyes. 金发碧眼
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-08-21 DOI: 10.1002/ajmg.c.32106
Elizabeth K Baker
{"title":"Blonde hair, blue eyes.","authors":"Elizabeth K Baker","doi":"10.1002/ajmg.c.32106","DOIUrl":"https://doi.org/10.1002/ajmg.c.32106","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32106"},"PeriodicalIF":2.8,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142016052","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}
引用次数: 0
Genesis and genetics of a miracle. 奇迹的起源与遗传。
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-08-20 DOI: 10.1002/ajmg.c.32102
Victoria Mok Siu
{"title":"Genesis and genetics of a miracle.","authors":"Victoria Mok Siu","doi":"10.1002/ajmg.c.32102","DOIUrl":"https://doi.org/10.1002/ajmg.c.32102","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32102"},"PeriodicalIF":2.8,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142003380","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}
引用次数: 0
Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders. 外显子组测序揭示了患有神经发育和神经肌肉疾病的巴基斯坦近亲家族的遗传异质性。
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-08-17 DOI: 10.1002/ajmg.c.32103
Anisa Bibi, Weizhen Ji, Lauren Jeffries, Cynthia Zerillo, Monica Konstantino, Emily K Mis, Filza Khursheed, Mustafa K Khokha, Saquib A Lakhani, Sajid Malik
{"title":"Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders.","authors":"Anisa Bibi, Weizhen Ji, Lauren Jeffries, Cynthia Zerillo, Monica Konstantino, Emily K Mis, Filza Khursheed, Mustafa K Khokha, Saquib A Lakhani, Sajid Malik","doi":"10.1002/ajmg.c.32103","DOIUrl":"https://doi.org/10.1002/ajmg.c.32103","url":null,"abstract":"<p><p>There remains a crucial need to address inequalities in genomic research and include populations from low- and middle-income countries (LMIC). Here we present eight consanguineous families from Pakistan, five with neurodevelopmental disorders (NDDs) and three with neuromuscular disorders (NMDs). Affected individuals were clinically characterized, and genetic variants were identified through exome sequencing (ES), followed by family segregation analysis. Affected individuals in six out of eight families (75%) carried homozygous variants that met ACMG criteria for being pathogenic (in the genes ADGRG1, METTL23, SPG11) or likely pathogenic (in the genes GPAA1, MFN2, SGSH). The remaining two families had homozygous candidate variants in the genes (AP4M1 and FAM126A) associated with phenotypes consistent with their clinical presentations, but the variants did not meet the criteria for pathogenicity and were hence classified as variants of unknown significance. Notably, the variants in ADGRG1, AP4M1, FAM126A, and SGSH did not have prior reports in the literature, demonstrating the importance of including diverse populations in genomic studies. We provide clinical phenotyping along with analyses of ES data that support the utility of ES in making accurate molecular diagnoses in these patients, as well as in unearthing novel variants in known disease-causing genes in underrepresented populations from LMIC.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32103"},"PeriodicalIF":2.8,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141995093","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}
引用次数: 0
Invisible strings. 无形的绳索
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-08-17 DOI: 10.1002/ajmg.c.32107
Ariel Ellen Shaver Lee
{"title":"Invisible strings.","authors":"Ariel Ellen Shaver Lee","doi":"10.1002/ajmg.c.32107","DOIUrl":"https://doi.org/10.1002/ajmg.c.32107","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32107"},"PeriodicalIF":2.8,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141995094","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}
引用次数: 0
Direct-to-consumer genome sequencing helps a mother take her child's diagnostic odyssey into her own hands. 直接面向消费者的基因组测序帮助一位母亲亲自为孩子进行诊断。
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-08-16 DOI: 10.1002/ajmg.c.32108
Meghan N Bartos, Anna C E Hurst, Caterina Abdala Villa
{"title":"Direct-to-consumer genome sequencing helps a mother take her child's diagnostic odyssey into her own hands.","authors":"Meghan N Bartos, Anna C E Hurst, Caterina Abdala Villa","doi":"10.1002/ajmg.c.32108","DOIUrl":"https://doi.org/10.1002/ajmg.c.32108","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32108"},"PeriodicalIF":2.8,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141995092","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}
引用次数: 0
Catatonia responsive to corticosteroids in a patient with an SCN2A variant. 一名 SCN2A 变异患者对皮质类固醇有反应的紧张症。
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-07-26 DOI: 10.1002/ajmg.c.32101
Kimberly Senko, Kelsey L Saddoris, Ella Baus, Katherine Soe, Samuel E Vaughn
{"title":"Catatonia responsive to corticosteroids in a patient with an SCN2A variant.","authors":"Kimberly Senko, Kelsey L Saddoris, Ella Baus, Katherine Soe, Samuel E Vaughn","doi":"10.1002/ajmg.c.32101","DOIUrl":"https://doi.org/10.1002/ajmg.c.32101","url":null,"abstract":"<p><p>Variants in SCN2A are a known risk factor for developing autism spectrum disorder (ASD). Catatonia is a complex neuropsychiatric syndrome, which occurs at a higher rate in individuals with ASD. Catatonia has also been associated with COVID-19 infection, though the majority of these cases are associated with increased serum inflammatory markers. We present a case of a 15-year-old female with ASD and corticosteroid responsive stuporous catatonia to explore the relationship between SCN2A variants, ASD, COVID-19 exposure, and treatment refractory catatonia. Despite a lack of significantly elevated serum or CSF inflammatory markers, this patient showed significant improvement following initiation of corticosteroid therapy. This case presents a novel approach to the work-up and treatment of catatonia in individuals with SCN2A variants independent of elevated inflammatory markers.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32101"},"PeriodicalIF":2.8,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141756538","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}
引用次数: 0
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome. 扩展神经纤维瘤病 1 型微缺失综合征的表型。
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-07-18 DOI: 10.1002/ajmg.c.32095
Jenny P Garzon, Andrea Patete, Lindsey Aschbacher-Smith, Dima Qu'd, Geraldine Kelly-Mancuso, Carolyn R Raski, Allison Goetsch Weisman, Madison Hankins, Michael Sawin, Katherine Kim, Andy Drackley, Janice Zeid, K Nicole Weaver, Robert J Hopkin, Howard M Saal, Joel Charrow, Elizabeth Schorry, Robert Listernick, Brittany N Simpson, Carlos E Prada
{"title":"Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.","authors":"Jenny P Garzon, Andrea Patete, Lindsey Aschbacher-Smith, Dima Qu'd, Geraldine Kelly-Mancuso, Carolyn R Raski, Allison Goetsch Weisman, Madison Hankins, Michael Sawin, Katherine Kim, Andy Drackley, Janice Zeid, K Nicole Weaver, Robert J Hopkin, Howard M Saal, Joel Charrow, Elizabeth Schorry, Robert Listernick, Brittany N Simpson, Carlos E Prada","doi":"10.1002/ajmg.c.32095","DOIUrl":"https://doi.org/10.1002/ajmg.c.32095","url":null,"abstract":"<p><p>Neurofibromatosis type 1 (NF-1) microdeletion syndrome accounts for 5 to 11% of individuals with NF-1. The aim of our study was to characterize a large cohort of individuals with NF-1 microdeletion syndrome and expand its natural history. We conducted a retrospective chart review from 1994 to 2024 of individuals with NF-1 microdeletion syndrome followed at two large Neurofibromatosis Clinics. This cohort consists of 57 individuals with NF-1 microdeletion syndrome (28 type-1, 4 type-2, 2 type-3, 9 atypical deletions, and 14 indeterminate). We note 38/56 (67.9%) with describable facial features, 25/57 (43.8%) with plexiform neurofibromas, and 3/57 (5.2%) with malignant peripheral nerve sheath tumors within the observed period. The most reported neurodevelopmental manifestations from school-age or older individuals included 39/49 (79.6%) with developmental delays, 35/49 (71.4%) with expressive and/or receptive speech delays, 33/41 (80.5%) with learning difficulties, and 23/42 (54.8%) with attention-deficit/hyperactivity disorder. Full-scale IQ testing data was available for 22 individuals (range: 50-96). Of the 21 adults in this cohort, 14/21 (66.7%) graduated from high school, and 4/21 (19.0%) had some college experience. Many individuals received academic support (i.e., special education, individual education plan). In this cohort, neurocognitive outcomes in adults varied more than typically reported in the literature.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32095"},"PeriodicalIF":2.8,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141632407","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}
引用次数: 0
Negative, normal, nondiagnostic. 阴性、正常、无诊断意义。
IF 2.8 3区 医学
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-07-18 DOI: 10.1002/ajmg.c.32100
Arthur Lenahan
{"title":"Negative, normal, nondiagnostic.","authors":"Arthur Lenahan","doi":"10.1002/ajmg.c.32100","DOIUrl":"https://doi.org/10.1002/ajmg.c.32100","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":"e32100"},"PeriodicalIF":2.8,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141632408","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}
引用次数: 0
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