American Journal of Medical Genetics Part A最新文献

Associated Anomalies in Radial Ray Deficiency. 放射线缺失的相关异常。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-24 DOI: 10.1002/ajmg.a.63874

Claude Stoll, Yves Alembik, Marie-Paule Roth

{"title":"Associated Anomalies in Radial Ray Deficiency.","authors":"Claude Stoll, Yves Alembik, Marie-Paule Roth","doi":"10.1002/ajmg.a.63874","DOIUrl":"https://doi.org/10.1002/ajmg.a.63874","url":null,"abstract":"Radial ray deficiency (RRD) may be isolated, without other congenital anomalies or co-occurring with other, non-RRD, congenital anomalies. The prevalence and the types of co-occurring anomalies are variable in the reported studies. The aim of this study was to obtain the prevalence and the types of co-occurring congenital anomalies among cases with RRD in a geographically well-characterized population of 387,067 consecutive births in northeastern France from 1979 to 2007 including live births, stillbirths and terminations of pregnancy. During the study period 83 cases with RRD were ascertained (prevalence of 2.14 per 10,000 births), 63 cases (75.9%) had co-occurring anomalies. Cases with co-occurring anomalies were divided into chromosomal anomalies (18 cases, 22%), syndromic conditions (syndromes and associations, 23 cases, 28%), and multiple congenital anomalies (MCA) (22 cases, 26%). Trisomies 18 and autosomal deletions were the most common chromosomal abnormalities. Thrombocytopenia absent radii syndrome, VACTERL association, Fanconi anemia, Roberts syndrome, and Holt-Oram syndrome were the most common syndromic conditions. Anomalies in the musculoskeletal, the cardiovascular, the urinary, and the orofacial system were the most common co-occurring anomalies in cases with MCA. As cases with RRD have often co-occurring congenital anomalies, a multidisciplinary checkup of these cases is recommended.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142306949","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

Hospital Visits Associated With Oral Infections in Patients With Neurofibromatosis Type 1: A Register-Based Analysis. 与神经纤维瘤病 1 型患者口腔感染有关的医院就诊情况：基于登记的分析。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-24 DOI: 10.1002/ajmg.a.63887

Vivian Reinhold, Roope A Kallionpää, Mikko Valtanen, Kari Auranen, Stina Syrjänen, Sirkku Peltonen, Juha Peltonen

{"title":"Hospital Visits Associated With Oral Infections in Patients With Neurofibromatosis Type 1: A Register-Based Analysis.","authors":"Vivian Reinhold, Roope A Kallionpää, Mikko Valtanen, Kari Auranen, Stina Syrjänen, Sirkku Peltonen, Juha Peltonen","doi":"10.1002/ajmg.a.63887","DOIUrl":"https://doi.org/10.1002/ajmg.a.63887","url":null,"abstract":"Various forms of oral involvement have been reported in patients with neurofibromatosis 1 (NF1). Here, we analyze register-based associations between NF1 and hospital visits related to oral infections. The Finnish NF1 cohort encompasses all individuals with verified NF1 who have visited the Finnish central and university hospitals in 1987-2011. The Finnish Care Register for Health Care allowed the follow-up of 1349 individuals with NF1, their 1894 siblings without NF1, and 13,870 matched controls for diagnoses related to oral infections in 1998-2014. We observed clearly increased hazards for hospital visits associated with dental caries (ICD-10 K02; NF1 vs. controls, hazard ratio [HR] 4.42, 95% CI 3.23-6.04), diseases of pulp and periapical tissues (K04; HR 3.85, 95% CI 2.68-5.54), and gingivitis and periodontal diseases (K05; HR 3.63, 95% CI 2.37-5.56). In contrast, hospital visits related to diseases of salivary glands (K11), and stomatitis and related lesions (K12) did not show significantly increased hazard in NF1 compared with the controls or the non-NF1 siblings. In conclusion, the findings suggest that hospital visits related to oral infections are relatively common among individuals with NF1. The results highlight the need for early detection, proactive prevention, and timely treatment of oral infections in individuals with NF1.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142306950","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

SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia. SF3B2单倍体缺陷与赫氏病和复杂心脏缺陷有关，但不伴有颅面小畸形。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-21 DOI: 10.1002/ajmg.a.63886

Florencia Del Viso, Dihong Zhou, Susan Starling, Emily Fleming, Carol Saunders

引用次数: 0

Evaluating the Influence of Social Determinants of Health on Blood Phenylalanine Levels in Phenylketonuria Patients. 评估健康的社会决定因素对苯丙酮尿症患者血液中苯丙氨酸水平的影响。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-21 DOI: 10.1002/ajmg.a.63885

Cassandra Afseth, Josh Knutsen, Thomas Lamborn, Erika Vucko, Kirsten Havens, Soo Shim, Joshua Baker

{"title":"Evaluating the Influence of Social Determinants of Health on Blood Phenylalanine Levels in Phenylketonuria Patients.","authors":"Cassandra Afseth, Josh Knutsen, Thomas Lamborn, Erika Vucko, Kirsten Havens, Soo Shim, Joshua Baker","doi":"10.1002/ajmg.a.63885","DOIUrl":"https://doi.org/10.1002/ajmg.a.63885","url":null,"abstract":"Phenylketonuria (PKU) is a genetic metabolic disorder that causes the accumulation of phenylalanine (Phe) in tissues, leading to intellectual disability, seizures, and socioemotional challenges. The role of social determinants of health (SDOH) in PKU management has not been formally studied, and this investigation evaluates the association between in-home and in-office factors on blood Phe levels in PKU patients. We conducted a retrospective chart review on over 200 patients attending the well-resourced PKU Clinic at Lurie Children's Hospital of Chicago. Data included patients' average Phe level, various demographic information, and CDC/ATSDR social vulnerability index (SVI) score. The analysis revealed no significant association between social vulnerability status and average Phe level. However, a significant correlation was found between sapropterin dihydrochloride use and average Phe level. Age interacted separately with sex assigned at birth, pegvaliase use, total Phe samples submitted, and the presence of genetic testing to significantly influence the average Phe level. This study highlights the multifactorial influences on PKU management and underscores the importance of social resources, such as clinic social workers and state-provided formula, in modulating the effects of SDOH on PKU control. Further research in different healthcare settings is needed to understand the social determinants affecting PKU patients comprehensively, which will strengthen advocacy efforts for this population.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142278984","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

Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype 池川型颅管发育不良：表型的进一步界定

IF 2 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-20 DOI: 10.1002/ajmg.a.63870

Babeth van Ommeren, Maud Hoekstra, Koen van Gassen, Richard van Jaarsveld, Gijs van Haaften, Irene Mathijssen, Ruben Dammers, Marie-Lise van Veelen, Rolanda Baars, Jacques C. Giltay

引用次数: 0

Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion 魏斯-克鲁兹卡综合征的七种新型变异和表型扩展

IF 2 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-17 DOI: 10.1002/ajmg.a.63856

Anna Hau, Anne Baxter, Kate Chandler, Andrew Fennell, Tzung-Chien Hsieh, Peter M. Krawitz, Jason Pinner, Himanshu Goel

引用次数: 0

Germline RTEL1 Variants in Telomere Biology Disorders 端粒生物学疾病中的胚系 RTEL1 变异

IF 2 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-16 DOI: 10.1002/ajmg.a.63882

Ashley S. Thompson, Marena R. Niewisch, Neelam Giri, Lisa J. McReynolds, Sharon A. Savage

{"title":"Germline RTEL1 Variants in Telomere Biology Disorders","authors":"Ashley S. Thompson, Marena R. Niewisch, Neelam Giri, Lisa J. McReynolds, Sharon A. Savage","doi":"10.1002/ajmg.a.63882","DOIUrl":"https://doi.org/10.1002/ajmg.a.63882","url":null,"abstract":"Rare germline variation in regulator of telomere elongation helicase 1 (RTEL1) is associated with telomere biology disorders (TBDs). Biallelic RTEL1 variants result in childhood onset dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome whereas heterozygous individuals usually present later in life with pulmonary fibrosis or bone marrow failure. We compiled all TBD-associated RTEL1 variants in the literature and assessed phenotypes and outcomes of 44 individuals from 14 families with mono- or biallelic RTEL1 variants enrolled in clinical trial NCT00027274. Variants were classified by adapting ACMG-AMP guidelines using clinical information, telomere length, and variant allele frequency data. Compared with heterozygotes, individuals with biallelic RTEL1 variants had an earlier age at diagnosis (median age 35.5 vs. 5.1 years, p < 0.01) and worse overall survival (median age 66.5 vs. 22.9 years, p < 0.001). There were 257 unique RTEL1 variants reported in 47 publications, and 209 had a gnomAD minor allele frequency <1%. Only 38.3% (80/209) met pathogenic/likely pathogenic criteria. Notably, 8 of 209 reported disease-associated variants were benign or likely benign and the rest were variants of uncertain significance. Given the considerable differences in outcomes of TBDs associated with RTEL1 germline variants and the extent of variation in the gene, systematic functional studies and standardization of variant curation are urgently needed to inform clinical management.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142251251","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

Assessing Postnatal Mortality in Smith–Lemli–Opitz Syndrome 评估史密斯-莱姆利-奥皮茨综合征的产后死亡率

IF 2 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-14 DOI: 10.1002/ajmg.a.63875

Aishwarya Selvaraman, Samar Rahhal, Simona Bianconi, Tristan Furnary, Forbes D. Porter

{"title":"Assessing Postnatal Mortality in Smith–Lemli–Opitz Syndrome","authors":"Aishwarya Selvaraman, Samar Rahhal, Simona Bianconi, Tristan Furnary, Forbes D. Porter","doi":"10.1002/ajmg.a.63875","DOIUrl":"https://doi.org/10.1002/ajmg.a.63875","url":null,"abstract":"Smith–Lemli–Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by pathological variants in DHCR7, resulting in a deficiency in the enzyme 7‐dehydrocholesterol reductase. This results in elevated levels of cholesterol precursors and typically low cholesterol levels, leading to a range of physical and cognitive challenges. Mortality rates in infants with severe SLOS are high, due to congenital malformations. Premature death has been described in individuals with SLOS, particularly in severely affected individuals. Further research is needed to understand postnatal mortality risk factors for individuals with SLOS. Understanding these factors could improve monitoring and prevention efforts. To investigate this, we obtained death certificates from the National Death Index (NDI) database on a cohort of individuals with SLOS who were enrolled in natural history studies at the National Institutes of Health Clinical Center (NCT00001721 and NCT05047354). Analysis and comparison of this deceased cohort showed that although premature death occurs in SLOS, many individuals with SLOS survive into adulthood. We also observed the risk of postnatal mortality increasing with higher severity scores and lower initial cholesterol levels.Trial Registration: NCT00001721 and NCT05047354.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142251252","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

First Trimester Fetal Clubfoot: A Novel Presentation of Severe Osteogenesis Imperfecta 头胎胎儿马蹄内翻足：严重成骨不全症的一种新表现形式

IF 2 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-14 DOI: 10.1002/ajmg.a.63867

Chloe Barnett, Kaitlyn Eddy, Phillip N. Rauk, Jill Lewter

引用次数: 0

X‐Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant 与一种新型 KIF4A 变异有关的 X-连锁双侧多毛症伴癫痫和智力障碍

IF 2 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-13 DOI: 10.1002/ajmg.a.63860

Naomi Laflamme, Valérie Triassi, Laurence Martineau, Dènahin Hinnoutondji Toffa, Laurent Létourneau‐Guillon, Annie Laplante, Patrick Cossette, Éric Samarut, Martine Tétreault, Dang Khoa Nguyen

引用次数: 0