American Journal of Medical Genetics Part A最新文献_第3页

The International Summit on Health Benefits of Physical Fitness for People With Down Syndrome: Current Science, Gaps, Priorities, and Research Opportunities. 体育锻炼对唐氏综合症患者的健康益处国际峰会：当前科学、差距、优先事项和研究机会。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-21 DOI: 10.1002/ajmg.a.64256

Nicolas M Oreskovic, Greg Austin, Brendan Aylward, Pieter Boer, Véronique-A Bricout, Nashwa Cheema, Amit Das, Bo Fernhall, Richard Fleming, Carolina Florez, Dan Gordon, Alexa Gozdiff Spognardi, Thessa Hilgenkamp, Hampus Hillerstromm, Christopher T Joyce, Don Keiller, Lois Kelly, Josh Komyerov, Andrew E Lincoln, Sarah Mann, Lake Murray, Kandi Pickard, Lauren T Ptomey, Kieran F Reid, Melissa Reilly, Margot Rhondeau, Stephanie L Santoro, Heidi Stanish, Josh Tam, Amy Torres, Brian G Skotko

{"title":"The International Summit on Health Benefits of Physical Fitness for People With Down Syndrome: Current Science, Gaps, Priorities, and Research Opportunities.","authors":"Nicolas M Oreskovic, Greg Austin, Brendan Aylward, Pieter Boer, Véronique-A Bricout, Nashwa Cheema, Amit Das, Bo Fernhall, Richard Fleming, Carolina Florez, Dan Gordon, Alexa Gozdiff Spognardi, Thessa Hilgenkamp, Hampus Hillerstromm, Christopher T Joyce, Don Keiller, Lois Kelly, Josh Komyerov, Andrew E Lincoln, Sarah Mann, Lake Murray, Kandi Pickard, Lauren T Ptomey, Kieran F Reid, Melissa Reilly, Margot Rhondeau, Stephanie L Santoro, Heidi Stanish, Josh Tam, Amy Torres, Brian G Skotko","doi":"10.1002/ajmg.a.64256","DOIUrl":"https://doi.org/10.1002/ajmg.a.64256","url":null,"abstract":"The summary paper reports on and highlights the scientific discussions and development process for new expert-recommended physical fitness guidelines for individuals with Down syndrome that occurred at the inaugural International Summit on Health Benefits of Physical Fitness for People with Down Syndrome (ISFDS). The Summit was a two-day event held in May 2025 at the Massachusetts General Hospital in Boston that brought together leading international scientists, clinicians, self-advocates, community services and industries, and local and national advocacy organizations to discuss the latest research, therapies, and collaborative opportunities in physical fitness for individuals with Down syndrome. Day 1 focused on the current state of the science and the identification of research gaps; Day 2 featured working groups dedicated to developing collaborations, planning future research, and creating expert clinical guidelines on physical fitness in children and adults with Down syndrome using a Delphi approach.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64256"},"PeriodicalIF":1.7,"publicationDate":"2025-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145111786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Parents' Experiences of Diagnosis and Screening for Down Syndrome in The Netherlands. 荷兰父母对唐氏综合症的诊断和筛查经验。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-19 DOI: 10.1002/ajmg.a.64250

Gert de Graaf, Brian G Skotko

引用次数: 0

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population-Based Study From Japan. 13三体的死亡率模式和表型簇：一项来自日本的基于人群的研究。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-19 DOI: 10.1002/ajmg.a.64269

Narumi Kato, Naho Morisaki, Akinori Moriichi

{"title":"Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population-Based Study From Japan.","authors":"Narumi Kato, Naho Morisaki, Akinori Moriichi","doi":"10.1002/ajmg.a.64269","DOIUrl":"https://doi.org/10.1002/ajmg.a.64269","url":null,"abstract":"Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large-scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns. To this end, a population-based study was conducted using Japanese population-based mortality data from the Vital Statistics Database (n = 4,230,092 death records); we examined early mortality and identified phenotypic subgroups based on combinations of co-occurring causes of death. We identified 150 individuals with trisomy 13 who died between 2019 and 2021. Cardiovascular disease was significantly associated with early mortality. Using K-means clustering based on principal components of cause-of-death categories, we identified three distinct subgroups: respiratory-dominant (19%), cardiovascular-dominant (64%), and multi-organ involvement (17%). The cardiovascular-dominant cluster showed the highest rate of death before age 1 (83%; p = 0.001), while surgical intervention rates did not significantly differ across clusters. These findings highlight phenotypic heterogeneity and may support individualized care planning for trisomy 13 and provide insights that may support future care and decision-making.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64269"},"PeriodicalIF":1.7,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Efficacy and Safety of Olipudase Alfa for the Treatment of Acid Sphingomyelinase Deficiency (ASMD): A Systematic Review and Meta-Analysis. 脂溶酶α治疗酸性鞘磷脂酶缺乏症（ASMD）的疗效和安全性：系统综述和荟萃分析。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-19 DOI: 10.1002/ajmg.a.64258

Breno Bopp Antonello, Giovanna Giovacchini, Anna Luiza Braga Albuquerque, Cainã Gonçalves Rodrigues, Laura Grespan Dill, Maria Inez Dacoregio, Paulo Victor Zattar Ribeiro

{"title":"Efficacy and Safety of Olipudase Alfa for the Treatment of Acid Sphingomyelinase Deficiency (ASMD): A Systematic Review and Meta-Analysis.","authors":"Breno Bopp Antonello, Giovanna Giovacchini, Anna Luiza Braga Albuquerque, Cainã Gonçalves Rodrigues, Laura Grespan Dill, Maria Inez Dacoregio, Paulo Victor Zattar Ribeiro","doi":"10.1002/ajmg.a.64258","DOIUrl":"https://doi.org/10.1002/ajmg.a.64258","url":null,"abstract":"Acid sphingomyelinase deficiency (ASMD), or Niemann-Pick disease types A, B, and A/B, is a rare lysosomal storage disorder caused by SMPD1 mutations. Clinical forms range from severe neurovisceral (type A) to chronic visceral (type B), mainly affecting the liver, spleen, and lungs. Until 2022, treatment was limited to supportive care. The approval of olipudase alfa for the non-central nervous system (CNS) manifestations of ASMD marked a major advance, with trials showing improvements in organ volumes and lung function. This meta-analysis evaluates the broader clinical impact of olipudase alfa in ASMD. A systematic search of Cochrane, PubMed, and Embase identified RCTs and cohort studies on olipudase alfa in patients with ASMD. Primary outcomes included mean change in %DLco, %Liver volume, and %Spleen volume; other secondary outcomes were also assessed. Study selection followed PRISMA guidelines, and statistical analyses were conducted using R software. The study was registered in PROSPERO CRD420251032281. Three studies (One RCT) encompassing 46 patients were included. Follow-up duration ranged from 1 to 6.5 years. All patients received olipudase alfa; only one study included a placebo group. Pooled results showed a mean DLco increase of 34.63% (95% CI: 26.09-43.18), a liver volume reduction of -37.76% (95% CI: -49.78 to -25.75), and a spleen volume reduction of -49.46% (95% CI: -57.39 to -41.53) after 2 years. The olipudase alfa demonstrates substantial clinical benefits in ASMD, significantly improving lung function and reducing organomegaly. Further studies are needed to confirm long-term safety and efficacy.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64258"},"PeriodicalIF":1.7,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Correction to "Occurrence of Cancer in Marfan Syndrome: Report of Two Patients With Neuroblastoma and Review of the Literature". 修正“马凡氏综合征中癌症的发生：两例神经母细胞瘤患者报告及文献复习”。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-19 DOI: 10.1002/ajmg.a.64248

引用次数: 0

Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion. 母亲UPD（20）导致Mulchandani-Bhoj-Conlin综合征：罕见的新生儿TRPS1额外缺失病例

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-18 DOI: 10.1002/ajmg.a.64261

Jingyi Zhang, Xia Chen, Ming Chen, Shiyuan Wu, Fang Huang, Rui Pan, Gaoyan Chen

引用次数: 0

An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy. IP3-ITPR1结合口袋中的ITPR1变异与动脉样脑瘫的临床表型相关

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-18 DOI: 10.1002/ajmg.a.64263

Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S Arterbery, Anita M Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R Davids, Peter N Robinson

{"title":"An ITPR1 Variant in the IP3-ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy.","authors":"Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S Arterbery, Anita M Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R Davids, Peter N Robinson","doi":"10.1002/ajmg.a.64263","DOIUrl":"https://doi.org/10.1002/ajmg.a.64263","url":null,"abstract":"A de novo, missense variant in ITPR1-inositol 1,4,5-trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole-genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay. The variant affects a residue involved in Inositol 1,4,5-trisphosphate (IP3)-ITPR1 binding. Genotype-Phenotype correlation analysis of the set of missense variants affecting nine residues involved in IP3-ITPR1 binding in the current case and 170 reports of individuals with ITPR1 variants showed a significantly higher frequency of phenotypic features related to neurodevelopmental delay in these variants than in other ITPR1 variants. Our proband was diagnosed with cerebral palsy, as were five other published individuals diagnosed with SCA29. Two of these individuals were siblings who were found to have the variant p.(Arg269Trp), also located in the IP3-ITPR1 binding pocket. These observations suggest that genotype-phenotype correlations exist in the ITPR1 gene and underscore the importance of data sharing and reuse to elucidate the natural history of rare neurodevelopmental diseases.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64263"},"PeriodicalIF":1.7,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145084636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Two Siblings With Al Kaissi Syndrome: Clinical, Radiological, and Molecular Characterization of Compound Heterozygous CDK10 Variants. 患有Al Kaissi综合征的两个兄弟姐妹：复合杂合CDK10变异的临床、放射学和分子特征。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-17 DOI: 10.1002/ajmg.a.64262

Zehra Manav Yigit, Aydan Mengubas Erbas, Ridvan Savas, Ayse Tosun, Goksel Tuzcu, Gokay Bozkurt

{"title":"Two Siblings With Al Kaissi Syndrome: Clinical, Radiological, and Molecular Characterization of Compound Heterozygous CDK10 Variants.","authors":"Zehra Manav Yigit, Aydan Mengubas Erbas, Ridvan Savas, Ayse Tosun, Goksel Tuzcu, Gokay Bozkurt","doi":"10.1002/ajmg.a.64262","DOIUrl":"https://doi.org/10.1002/ajmg.a.64262","url":null,"abstract":"Al Kaissi syndrome is a rare autosomal recessive neurodevelopmental disorder resulting from biallelic loss-of-function variants in the CDK10 gene. Cyclin-dependent kinase 10 (CDK10) encoded protein plays essential roles in cell cycle regulation, transcriptional control, and ciliogenesis. We report two male siblings presenting with developmental delay, dysmorphic facial features, and skeletal anomalies. Comprehensive clinical, radiological, and molecular genetic evaluations were performed on the affected individuals and their parents, including exome sequencing. Both siblings were found to carry compound heterozygous pathogenic variants in CDK10: a previously reported splice-site variant (c.609-1G > A) and a frameshift variant (c.520_521del), previously unreported in clinical cases. The clinical phenotype in both cases was consistent with Al Kaissi syndrome, including intellectual disability, facial dysmorphisms, spinal malformations, and delayed developmental milestones. This report presents the first Turkish cases of Al Kaissi syndrome with compound heterozygous CDK10 variants and thoroughly reviews previously reported cases. This expands the known phenotypic and genotypic spectrum of the disorder.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64262"},"PeriodicalIF":1.7,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145074141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

High Rate of Dysphagia and Silent Aspiration in Infants With Prader-Willi Syndrome-Considering Laryngeal Clefts. Prader-Willi综合征婴儿吞咽困难和无声吸入的高发率-考虑喉裂。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-16 DOI: 10.1002/ajmg.a.64237

Ann Scheimann, Minna Rodrigo, Eric Chiou, Christine Heubi

引用次数: 0

Neurodevelopmental and Mental Health Diagnoses Among Pediatric Patients With Turner Syndrome: A PEDSnet Study. 特纳综合征患儿的神经发育和心理健康诊断：一项PEDSnet研究

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-09-15 DOI: 10.1002/ajmg.a.64231

Christa Hutaff-Lee, Morgan Jolliffe, Karli S Swenson, Holly Wakeman, Deanna Swain, Anna Furniss, Natalie Nokoff, Jen Hansen-Moore, Chijioke Ikomi, Vaneeta Bamba, Rachel E Lean, Skyler Leonard, Shanlee M Davis

{"title":"Neurodevelopmental and Mental Health Diagnoses Among Pediatric Patients With Turner Syndrome: A PEDSnet Study.","authors":"Christa Hutaff-Lee, Morgan Jolliffe, Karli S Swenson, Holly Wakeman, Deanna Swain, Anna Furniss, Natalie Nokoff, Jen Hansen-Moore, Chijioke Ikomi, Vaneeta Bamba, Rachel E Lean, Skyler Leonard, Shanlee M Davis","doi":"10.1002/ajmg.a.64231","DOIUrl":"10.1002/ajmg.a.64231","url":null,"abstract":"Individuals with Turner syndrome (TS) are known to be at increased risk for neurodevelopmental disorders (NDD) and mental health (MH) conditions, but data from large, population-based pediatric samples remain limited. We examined the prevalence of NDD and MH diagnoses among youth with TS (N = 2145) compared to matched female controls (N = 8580) across six US pediatric health systems. Odds ratios (OR) and 95% confidence intervals (CI) were calculated using generalized estimating equations. Youth with TS had significantly higher odds of an NDD diagnosis (24.2% vs. 11.9%; OR 2.37, 95% CI 2.11-2.67), particularly for speech-language, motor, learning, and attentional disorders. Increased odds were also observed for autism spectrum disorder (ASD) and intellectual developmental disorder (IDD), though these remained relatively uncommon. In contrast, MH diagnoses, such as anxiety and mood disorders, were not more prevalent in TS compared to controls (17.3% vs. 18.5%; OR 0.92, 95% CI 0.81-1.05). These findings support the need for proactive neurodevelopmental screening in TS and raise important questions about the recognition and documentation of MH conditions in this population. Additional research is warranted to understand whether MH symptoms are underdiagnosed, present differently, or emerge later in development in youth with TS.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64231"},"PeriodicalIF":1.7,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145063108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0