American Journal of Medical Genetics Part C: Seminars in Medical Genetics最新文献_第9页

Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man 2型椎弓根骺端发育不良伴关节松弛:收集66岁男性的文献和生活报告

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-05-24 DOI: 10.1002/ajmg.c.32053

Alexander Beke, Karina da Costa Silveira, Taryn Athey, Peter Kannu

{"title":"Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man","authors":"Alexander Beke, Karina da Costa Silveira, Taryn Athey, Peter Kannu","doi":"10.1002/ajmg.c.32053","DOIUrl":"10.1002/ajmg.c.32053","url":null,"abstract":"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (SEMDJL2), is a rare bone dysplasia that results from hotspot (amino acids148/149) mutations in KIF22. Clinically, affected individuals present with generalized joint laxity, limb malalignment, midface hypoplasia, gracile digits, postnatal short stature, and occasionally, tracheolaryngomalacia; additionally, radiological features include severe epi-metaphyseal abnormalities and slender metacarpals. This report evaluates the progression of SEMDJL2 throughout the life of the oldest individual reported in the literature—a 66-year-old man with a pathogenic KIF22 variant (c.443C > T, p.Pro148Leu). The proband developed many of the clinical and radiological alterations consistent with the presentation of other individuals in the literature. Interestingly, throughout his life, joint limitation progressed, beginning with knee and elbow stricture (year 20), and later, limitation of the shoulders, hips, ankles, and wrists (year 40). This differs from previous case reports, where joint limitation is identified in 1-to-2 joints. Cumulatively, the progressive body-wide joint limitation resulted in early retirement (year 45) and difficulty completing daily tasks and managing personal hygiene culminating in the need for assisted living (year 65). In conclusion, we report on the clinical and radiological developments of a 66-year-old man with SEMDJL2, that developed significant joint limitation in adulthood.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"193 2","pages":"188-192"},"PeriodicalIF":3.1,"publicationDate":"2023-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32053","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9671266","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

Rod-cone dystrophy in an adult with GNB1-related disorder: An expansion of the phenotype and natural history 成人gnb1相关疾病的杆状锥体营养不良:表型和自然史的扩展

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-05-22 DOI: 10.1002/ajmg.c.32045

Xiao-Ru Yang, Faazil Kassam, A. Micheil Innes

引用次数: 0

Adult experiences in Beckwith–Wiedemann syndrome 贝克威斯-魏德曼综合征的成人经历

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-05-10 DOI: 10.1002/ajmg.c.32046

William A. Drust, Alessandro Mussa, Andrea Gazzin, Pablo Lapunzina, Jair Tenorio-Castaño, Julian Nevado, Patricia Pascual, Pedro Arias, Alejandro Parra, Kelly D. Getz, Jennifer M. Kalish

{"title":"Adult experiences in Beckwith–Wiedemann syndrome","authors":"William A. Drust, Alessandro Mussa, Andrea Gazzin, Pablo Lapunzina, Jair Tenorio-Castaño, Julian Nevado, Patricia Pascual, Pedro Arias, Alejandro Parra, Kelly D. Getz, Jennifer M. Kalish","doi":"10.1002/ajmg.c.32046","DOIUrl":"10.1002/ajmg.c.32046","url":null,"abstract":"Beckwith–Wiedemann syndrome (BWS) is an overgrowth and epigenetic disorder caused by changes on chromosome 11p15. The primary features requiring management in childhood include macroglossia, omphalocele, lateralized overgrowth, hyperinsulinism, and embryonal tumors. Management guidelines have not been developed for adults with BWS and there have been few studies to assess the clinical needs of these patients. Furthermore, there have been few studies on the psychosocial implications of BWS in children or adults. Here, we present a descriptive summary of data gathered from two separate adult BWS cohorts. The first, a patient-based survey cohort, includes self-reported health information and recollections about BWS experiences, while the second provides results of a medical record-based assessment from patients in an overgrowth registry. Results highlight the clinical features and medical issues affecting two large independent cohorts of adults with BWS while noting similarities. Open-ended questions asked of the survey cohort yielded themes to guide future qualitative studies. Finally, the study demonstrated the reliability of patient-reported data and the utility of international partnerships in this context.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"193 2","pages":"116-127"},"PeriodicalIF":3.1,"publicationDate":"2023-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9671970","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

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1. 自闭症和轻度癫痫与DNM1 GTPase效应域的新生错义致病变异有关。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-05-03 DOI: 10.1002/ajmg.c.32044

Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini

{"title":"Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1.","authors":"Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini","doi":"10.1002/ajmg.c.32044","DOIUrl":"https://doi.org/10.1002/ajmg.c.32044","url":null,"abstract":"Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in the GTPase and middle domains of the protein. We describe a 36-year-old man with autism and moderate intellectual disability who experienced only a few generalized seizures between the age 16 and 30 years. Using a whole sequencing approach, we identified the c.1994T>C p.(Leu665Pro) de novo novel missense pathogenic variant in the GTPase effector domain (GED) of the DNM1 protein. Structural analyses suggest that this substitution impairs both the stalk formation and its interactions, known to be important for the dynamin-1 physiological cellular function. Our data expand the spectrum of phenotypes associated with pathogenic variants in the DNM1 gene, linking a variant in the GED domain with autism and onset in the adolescence of mild epilepsy, a phenotypic presentation remarkably different from the early infantile epileptic encephalopathy associated with pathogenic variants in the GTPase or middle domains.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9752818","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: 2

Mental health in adults living with arthrogryposis multiplex congenita 成人多重先天性关节挛缩症患者的心理健康

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-04-27 DOI: 10.1002/ajmg.c.32042

Shirromi Sarveswaran, William Ben Mortenson, Bonita Sawatzky

{"title":"Mental health in adults living with arthrogryposis multiplex congenita","authors":"Shirromi Sarveswaran, William Ben Mortenson, Bonita Sawatzky","doi":"10.1002/ajmg.c.32042","DOIUrl":"10.1002/ajmg.c.32042","url":null,"abstract":"Little is known about the mental well-being of adults living with arthrogryposis multiplex congenita (AMC). The objectives of this study were to determine the incidence of depression in an international population of adults with AMC and to identify variables independently associated with depression. This cross-sectional study used independent samples t-test and hierarchical multiple regression. The mean Hospital Anxiety and Depression Scale—depression (HADS-D) score of our sample, which included 60 adults with AMC, was 4.0 ± 3.6, with 19% having some signs of depression. Occupation status, age, sex, physical independence, environmental factors, anxiety, and fatigue explained 52.2% of the variance in HADS-D. The prevalence of depression in an adult sample of individuals with AMC is similar to that of the general adult population in the United States. Beyond direct interventions to ameliorate depression, rehabilitation clinicians may also consider treatments and interventions to decrease anxiety and reduce fatigue and environmental barriers.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"193 2","pages":"139-146"},"PeriodicalIF":3.1,"publicationDate":"2023-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32042","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10027009","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

DNAJC21-related thrombocytopenia in a young adult female dnajc21相关的年轻成年女性血小板减少症

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-04-26 DOI: 10.1002/ajmg.c.32043

Deniz Aslan, Ozlem Akgun-Dogan, Beril Ay, Mahmut Orhun Çamurdan, Hanifenur Mancılar, Yasemin Alanay

引用次数: 0

Caregivers' concerns and supports needed to care for adults with Down syndrome 照顾患有唐氏综合症的成年人所需的照顾者的关注和支持。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-04-18 DOI: 10.1002/ajmg.c.32041

Erica De La Garza, Ashley Scott, Hampus Hillerstrom, James Hendrix, Eric Rubenstein

{"title":"Caregivers' concerns and supports needed to care for adults with Down syndrome","authors":"Erica De La Garza, Ashley Scott, Hampus Hillerstrom, James Hendrix, Eric Rubenstein","doi":"10.1002/ajmg.c.32041","DOIUrl":"10.1002/ajmg.c.32041","url":null,"abstract":"Research regarding caregivers for individuals with Down syndrome mainly focuses on outcomes for the pediatric population and not on the experience of caregivers themselves. Our objective was to understand caregiver-reported experiences and concerns for themselves and the individual they care for through a survey of caregivers of adults with Down syndrome. We conducted a survey of N = 438 caregivers of adults with Down syndrome and asked about the perspectives of the respondents surrounding caregiving and demographics. The most common concerns among caregivers were planning for future needs (72.1%) and what happens when they (the caregiver) are gone (68.3%). Concerns they had for the individual they cared for were employment (63.2%) and friendships/relationships (63.2%). We found no significant difference in responses based on caregiver education level. Our survey identified six themes for the feedback about what clinical and research professionals should know to better serve individuals with Down syndrome, their families, and those who support them. Many caregivers discussed topics including healthcare, coordination, competence, and ability. More efforts for research into the caregiver experience for adults with Down syndrome are needed.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10453995","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

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-04-12 DOI: 10.1002/ajmg.c.32040

Amelia M. Solomon, Benjamin D. Solomon

引用次数: 0

Cover Image, Volume 193, Number 1, March 2023 封面图片，第193卷，第1期，2023年3月

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-03-23 DOI: 10.1002/ajmg.c.31976

引用次数: 0

Publication schedule for 2023 2023年出版时间表

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-03-23 DOI: 10.1002/ajmg.c.31975

引用次数: 0