American Journal of Medical Genetics Part C: Seminars in Medical Genetics最新文献_第3页

Practicalities (and real-life experiences) of dementia in adults with Down syndrome. 唐氏综合症成人痴呆症的实际情况（和真实经历）。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-07-05 DOI: 10.1002/ajmg.c.32098

Ayesha Harisinghani, Clorinda Cottrell, Karen Donelan, Alice D Lam, Margaret Pulsifer, Stephanie L Santoro

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On stillness. 关于静止

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-06-28 DOI: 10.1002/ajmg.c.32096

Linda Z Rossetti

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Occurrence of mosaic Down syndrome and prevalence of co-occurring conditions in Medicaid enrolled adults, 2016-2019. 2016-2019 年参加医疗补助计划的成人中马赛克唐氏综合征的发生率和并发症的流行率。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-06-25 DOI: 10.1002/ajmg.c.32097

Eric Rubenstein, Salina Tewolde, Brian G Skotko, Amy Michals, Juan Fortea

{"title":"Occurrence of mosaic Down syndrome and prevalence of co-occurring conditions in Medicaid enrolled adults, 2016-2019.","authors":"Eric Rubenstein, Salina Tewolde, Brian G Skotko, Amy Michals, Juan Fortea","doi":"10.1002/ajmg.c.32097","DOIUrl":"https://doi.org/10.1002/ajmg.c.32097","url":null,"abstract":"Background: Mosaic Down syndrome is a triplication of chromosome 21 in some but not all cells. Little is known about the epidemiology of mosaic Down syndrome. We described prevalence of mosaic Down syndrome and the co-occurrence of common chronic conditions in 94,533 Medicaid enrolled adults with any Down syndrome enrolled from 2016 to 2019.Methods: We identified mosaic Down syndrome using the International Classification of Diseases and Related Health Problems, tenth edition code for mosaic Down syndrome and compared to those with nonmosaic Down syndrome codes. We identified chronic conditions using established algorithms and compared prevalence by mosaicism.Results: In total, 1966 (2.08%) had claims for mosaic Down syndrome. Mosaicism did not differ by sex or race/ethnicity with similar age distributions. Individuals with mosaicism were more likely to present with autism (13.9% vs. 9.6%) and attention deficit hyperactivity disorder (17.7% vs. 14.0%) compared to individuals without mosaicism. In total, 22.3% of those with mosaic Down syndrome and 21.5% of those without mosaicism had claims for Alzheimer's dementia (Prevalence difference: 0.8; 95% Confidence interval: -1.0, 2.8). The mosaic group had 1.19 times the hazard of Alzheimer's dementia compared to the nonmosaic group (95% CI: 1.0, 1.3).Discussion: Mosaicism may be associated with a higher susceptibility to certain neurodevelopmental and neurodegenerative conditions, including Alzheimer's dementia. Our findings challenge previous assumptions about its protective effects in Down syndrome. Further research is necessary to explore these associations in greater depth.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141454522","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}

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A plot TWIST. 情节曲折。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-06-18 DOI: 10.1002/ajmg.c.32090

Sophia R Meyer, Tara L Wenger

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Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. 伴有智力障碍的眼睑下垂症与 Helsmoortel-Van Der Aa 综合征具有相同的表征和表型。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-06-17 DOI: 10.1002/ajmg.c.32089

Camilla Sarli, Liselot van der Laan, Jack Reilly, Slavica Trajkova, Diana Carli, Alfredo Brusco, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Matthew L Tedder, Cindy Skinner, Mariëlle Alders, Peter Henneman, Raoul C M Hennekam, Claudia Ciaccio, Stefano D'Arrigo, Antonio Vitobello, Laurence Faivre, Sacha Weber, Aline Vincent-Devulder, Laurence Perrin, Alexia Bourgois, Toshiyuki Yamamoto, Kay Metcalfe, Marcella Zollino, Usha Kini, Daniela Oliveira, Sergio B Sousa, Denise Williams, Gerarda Cappuccio, Bekim Sadikovic, Nicola Brunetti-Pierri

{"title":"Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.","authors":"Camilla Sarli, Liselot van der Laan, Jack Reilly, Slavica Trajkova, Diana Carli, Alfredo Brusco, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Matthew L Tedder, Cindy Skinner, Mariëlle Alders, Peter Henneman, Raoul C M Hennekam, Claudia Ciaccio, Stefano D'Arrigo, Antonio Vitobello, Laurence Faivre, Sacha Weber, Aline Vincent-Devulder, Laurence Perrin, Alexia Bourgois, Toshiyuki Yamamoto, Kay Metcalfe, Marcella Zollino, Usha Kini, Daniela Oliveira, Sergio B Sousa, Denise Williams, Gerarda Cappuccio, Bekim Sadikovic, Nicola Brunetti-Pierri","doi":"10.1002/ajmg.c.32089","DOIUrl":"https://doi.org/10.1002/ajmg.c.32089","url":null,"abstract":"Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides-Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability. BIS is caused by pathogenic variants in SMARCA2, that encodes the catalytic subunit of the superfamily II helicase group of the BRG1 and BRM-associated factors (BAF) forming the BAF complex, a chromatin remodeling complex involved in transcriptional regulation. Individuals bearing variants within the bipartite nuclear localization (BNL) signal domain of ADNP present with the neurodevelopmental disorder known as Helsmoortel-Van Der Aa Syndrome (HVDAS). Distinct DNA methylation profiles referred to as episignatures have been reported in HVDAS and BAF complex disorders. Due to molecular interactions between ADNP and BAF complex, and an overlapping craniofacial phenotype with narrowing of the palpebral fissures in a subset of patients with HVDAS and BIS, we hypothesized the possibility of a common phenotype-specific episignature. A distinct episignature was shared by 15 individuals with BIS-causing SMARCA2 pathogenic variants and 12 individuals with class II HVDAS caused by truncating pathogenic ADNP variants. This represents first evidence of a sensitive phenotype-specific episignature biomarker shared across distinct genetic conditions that also exhibit unique gene-specific episignatures.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141330198","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

Simpson-Golabi-Behmel syndrome. 辛普森-戈拉比-贝梅尔综合征。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-05-20 DOI: 10.1002/ajmg.c.32088

Alessandro Vaisfeld, Giovanni Neri

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Domain-specific phenotypes in LINS1-related disorder-A Chinese family with the Q92X variant and literature review. LINS1相关障碍的领域特异性表型--一个具有Q92X变体的中国家庭及文献综述。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-04-02 DOI: 10.1002/ajmg.c.32085

Xu-Ying Li, Zhanjun Wang, Yanping Yang, Ruichai Lin, Chaodong Wang

{"title":"Domain-specific phenotypes in LINS1-related disorder-A Chinese family with the Q92X variant and literature review.","authors":"Xu-Ying Li, Zhanjun Wang, Yanping Yang, Ruichai Lin, Chaodong Wang","doi":"10.1002/ajmg.c.32085","DOIUrl":"https://doi.org/10.1002/ajmg.c.32085","url":null,"abstract":"LINS1 is the human homolog of the Drosophila segment polarity gene that encodes an essential regulator of the wingless/Wnt signaling. By 2011, only seven pedigrees (16 patients) with eight causative variants in LINS1 gene have been reported. These cases mainly presented with infancy-/child-onset neurodevelopmental disorders, facial dysmorphia, and other clinical features, and a wide spectrum of clinically distinct phenotypes were also manifested. In our study, two brothers in a family were admitted and diagnosed with child-onset movement disorders, slight intellectual disability, psychological symptoms, eye problems, urinary and bowel dysfunction, mitral value prolapse, and Q-T prolongation. By exome sequencing, we identified a nonsense homozygous pathogenic variant (LINS1: c.274C > T (p.Q92X)), which had been reported in a case diagnosed with intellectual disability and psychiatric disorders (such as schizophrenia and anxiety). Compared with this case, the clinical features of our cases were distinct. In particular, our cases displayed unusual features of heart and blood system. Furthermore, the genotype-phenotype relationship analysis suggested that distinct phenotypes presented in cases carrying variants in different domains of the LINS1 gene. In conclusions, our findings suggest the high clinical variations in the LINS1 variants-related disorders. Moreover, the Q92X might be a recurrent variant in Hans of Southern China.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140334340","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

Cover Image, Volume 196, Number 1, March 2024 封面图片，第 196 卷，第 1 号，2024 年 3 月

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-03-11 DOI: 10.1002/ajmg.c.32084

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Table of Contents, Volume 196, Number 1, March 2024 目录，第 196 卷，第 1 号，2024 年 3 月

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-03-11 DOI: 10.1002/ajmg.c.32047

引用次数: 0

An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X. 百万退伍军人计划中成年女性的额外 X 染色体：从更良性的角度看待 X 三体综合征。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-03-05 DOI: 10.1002/ajmg.c.32083

Shanlee M Davis, Craig C Teerlink, Julie A Lynch, Natalia Klamut, Bryan R Gorman, Meghana S Pagadala, Matthew S Panizzon, Victoria C Merritt, Giulio Genovese, Judith L Ross, Richard L Hauger

{"title":"An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X.","authors":"Shanlee M Davis, Craig C Teerlink, Julie A Lynch, Natalia Klamut, Bryan R Gorman, Meghana S Pagadala, Matthew S Panizzon, Victoria C Merritt, Giulio Genovese, Judith L Ross, Richard L Hauger","doi":"10.1002/ajmg.c.32083","DOIUrl":"10.1002/ajmg.c.32083","url":null,"abstract":"Despite affecting in 1 in every 1000 females, remarkably little is known about trisomy X syndrome (47,XXX), especially among older adults who are undiagnosed. In this study, we aimed to determine the prevalence of 47,XXX among females enrolled in the Million Veterans Program (MVP; mean age 50.2 ± 13.6 years), and compare broad health outcomes between females with 47,XXX and 46,XX matched controls. We identified 61 females with an additional X chromosome, corresponding to a prevalence of 103 per 100,000 females; 27.9% had been clinically diagnosed. Females with 47,XXX had taller stature (+6.1 cm, p < 0.001), greater rate of outpatient encounters (p = 0.026), higher odds of kidney disease (odds ratio [OR] = 12.3; 95% confidence interval [CI] 2.9-51.8), glaucoma (OR = 5.1; 95% CI 1.5-13.9), and congestive heart failure (OR = 5.6; 95% CI 1.4-24.2), and were more likely to be unemployed (p = 0.008) with lower annual income (p = 0.021) when compared with 46,XX controls of the same age and genetic ancestry. However, there were no differences in the rates of other encounter types, Charlson Comorbidity Index, all other medical and psychological diagnoses, military service history or quality of life metrics. In conclusion, in this aging and predominately undiagnosed sample, 47,XXX conferred few differences when compared with matched controls, offering a more reassuring perspective to the trisomy X literature.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11374932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140027176","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}

引用次数: 0