American Journal of Medical Genetics Part A最新文献_第7页

Study Strengthens Link between Autism Spectrum Disorder and Gut Microbiome 研究加强了自闭症谱系障碍与肠道微生物组之间的联系

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-12 DOI: 10.1002/ajmg.a.63288

引用次数: 0

Table of Contents, Volume 194A, Number 10, October 2024 目录，第 194A 卷，第 10 号，2024 年 10 月

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-12 DOI: 10.1002/ajmg.a.63291

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Whole-Genome Sequencing Can Improve Care in Pediatric Cancer 全基因组测序可改善儿童癌症护理

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-12 DOI: 10.1002/ajmg.a.63289

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Cover Image, Volume 194A, Number 10, October 2024 封面图片，第 194A 卷，第 10 号，2024 年 10 月

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-12 DOI: 10.1002/ajmg.a.63879

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A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant 一种由新型 EFEMP1 致病变异体引起的结合了青少年青光眼和多因蜂巢视网膜营养不良症（Malattia Leventinese）的新眼表型

IF 2 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-12 DOI: 10.1002/ajmg.a.63869

Oscar F. Chacon‐Camacho, Thania Ordaz‐Robles, Marion A. Cid‐García, Olivia Yepes‐Rodríguez, Rocio Arce‐González, Alan Martínez‐Aguilar, Juan Carlos Zenteno

{"title":"A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant","authors":"Oscar F. Chacon‐Camacho, Thania Ordaz‐Robles, Marion A. Cid‐García, Olivia Yepes‐Rodríguez, Rocio Arce‐González, Alan Martínez‐Aguilar, Juan Carlos Zenteno","doi":"10.1002/ajmg.a.63869","DOIUrl":"https://doi.org/10.1002/ajmg.a.63869","url":null,"abstract":"Doyne honeycomb retinal dystrophy (DHRD), also termed malattia leventinese (MLVT), is a dominantly inherited ocular disease characterized by the progressive accumulation of macular and peripapillary drusenoid material beneath the retinal pigment epithelium in the Bruch membrane. In all affected individuals genetically characterized to date, DHRD/MLVT is caused by a single heterozygous p.Arg345Trp missense variant in the EGF‐containing fibulin‐like extracellular matrix protein 1, EFEMP1. Recently, pathogenic variants in the EFEMP1 gene have also been demonstrated in several families with juvenile or adult‐onset hereditary isolated glaucoma. Here, we describe a family featuring a unique phenotype of juvenile glaucoma and DHRD/MLVT caused by a novel EFEMP1 variant. Our results expand both the ocular phenotype associated with EFEMP1 variants and the molecular spectrum causing DHRD by describing the first non‐p.Arg345Trp EFEMP1 pathogenic allele.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179895","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

Loss‐of‐Function Variant in PPP1R12A‐Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal PPP1R12A 相关泌尿生殖器和/或脑畸形综合征的功能缺失变异：性别逆转的扩展表型

IF 2 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-11 DOI: 10.1002/ajmg.a.63876

Silvina Noemí Contreras‐Capetillo, Melania Abreu‐González, Yahir Centeno‐Navarrete, Stephany Renatta Ferro‐Muñoz, Julio Ceballos‐Zapata, Cesiah García‐Martínez

{"title":"Loss‐of‐Function Variant in PPP1R12A‐Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal","authors":"Silvina Noemí Contreras‐Capetillo, Melania Abreu‐González, Yahir Centeno‐Navarrete, Stephany Renatta Ferro‐Muñoz, Julio Ceballos‐Zapata, Cesiah García‐Martínez","doi":"10.1002/ajmg.a.63876","DOIUrl":"https://doi.org/10.1002/ajmg.a.63876","url":null,"abstract":"Differences of sex development (DSDs) are a heterogeneous group of congenital conditions in which chromosomal, gonadal, or anatomical sex does not match. The broad spectrum of phenotypes associated with DSDs requires accurate diagnosis, which influences the care and quality of life of affected patients. The decreasing costs of next‐generation sequencing (NGS) and international research collaborations in rare diseases have allowed the identification of new genes associated with DSDs. Recently, Hughes et al. in 2020 reported the association of loss‐of‐function (LoF) variants in PPP1R12A with morphological anomalies of the midline, including holoprosencephaly and urogenital malformations, also known as genitourinary and/or brain malformation syndrome (OMIM #618820). In this report, we describe a Mexican individual with hypertelorism, multiple skin hemangiomas, testicular atrophy, and sex reversal, in whom a c.1880delC frameshift variant in PPP1R12A was detected by exome sequencing. Segregation analysis confirmed it as a de novo variant through Sanger sequencing. The main objective of this report is to expand PPP1R12A‐related urogenital and/or brain malformation syndrome.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179813","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

Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome 主动脉根扩张与菲兰-麦克德米综合征基因型的关系

IF 2 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-11 DOI: 10.1002/ajmg.a.63872

Jake Gluckman, Tess Levy, Kate Friedman, Francesca Garces, Rajna Filip-Dhima, Aisling Quinlan, Isabelle Iannotti, Margaret Pekar, Alexandra Lopez Hernandez, Madison T. Nava, Elijah Kravets, Abigail Siegel, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Siddharth Srivastava, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Bruce D. Gelb

{"title":"Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome","authors":"Jake Gluckman, Tess Levy, Kate Friedman, Francesca Garces, Rajna Filip-Dhima, Aisling Quinlan, Isabelle Iannotti, Margaret Pekar, Alexandra Lopez Hernandez, Madison T. Nava, Elijah Kravets, Abigail Siegel, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Siddharth Srivastava, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Bruce D. Gelb","doi":"10.1002/ajmg.a.63872","DOIUrl":"https://doi.org/10.1002/ajmg.a.63872","url":null,"abstract":"Phelan-McDermid syndrome (PMS) is a rare genetic neurodevelopmental disorder that results from the loss of one functional copy of the SHANK3 gene. While many clinical features of PMS are well-understood, there is currently limited literature on cardiovascular abnormalities in PMS. This report aims to evaluate the prevalence of aortic root dilation (ARD) among individuals with PMS and to understand if underlying genetic variation relates to risk for ARD. We present findings from 59 participants collected from a multisite observational study evaluating the phenotype and natural history of PMS. Individual echocardiographic and genetic reports were analyzed for aortic root measurements and genetic variant data, respectively. Our a priori hypothesis was that participants with chromosome 22 deletions with hg19 start coordinates on or before 49,900,000 (larger deletions) would have more instances of ARD than participants with deletion start coordinates after 49,900,000 (smaller deletions). Eight participants (14%) had ARD, and its presence was statistically significantly associated with large deletions (p = 0.047). Relatedly, participants with ARD had significantly more genes deleted on chromosome 22 than participants without ARD (p = 0.013). These results could aid in the identification of individuals with PMS who are at higher risk for ARD.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179892","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

Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the P2RX2 Gene 一个 P2RX2 基因可能致病变异的中国家庭植入人工耳蜗的新临床表现和良好治疗效果

IF 2 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-11 DOI: 10.1002/ajmg.a.63877

Qiang Li, Shuping Sun, Bin Zuo, Chengyu Lian, Wenxue Tang, Hongen Xu, Wei Lu

{"title":"Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the P2RX2 Gene","authors":"Qiang Li, Shuping Sun, Bin Zuo, Chengyu Lian, Wenxue Tang, Hongen Xu, Wei Lu","doi":"10.1002/ajmg.a.63877","DOIUrl":"https://doi.org/10.1002/ajmg.a.63877","url":null,"abstract":"The rapid development and clinical application of sequencing technologies enable the genetic diagnosis of inherited deafness. P2RX2, as the gene responsible for autosomal dominant non‐syndromic deafness‐41 (DFNA41), has been proven to be essential for life‐long normal hearing and for the protection of noise‐induced hearing loss (NIHL). Our present study reports a missense variant in the P2RX2 gene (c.178G > T (p.V60L)), for the second time worldwide, in a five‐generation kindred living in Henan, China. Despite carrying the same variant, the affected members in this family appear to present with earlier‐onset hearing loss and poorer hearing compared to the original DFNA41 families. In addition, this study supplements some content that was not covered in previous reports. We quantitatively evaluated the pain perception ability of some members using the Pain Vision PS‐2100 system, and further found an interesting clinical manifestation, that is, hyperalgesia, in heterozygotes for P2RX2 p.V60L. The cochlear implant (CI) was also provided for the proband of profound deafness, resulting in satisfactory clinical outcomes. Finally, we carried out a systematic review of recently published articles on the P2RX2 gene, which is beneficial for better understanding the role of the P2RX2 gene in the auditory system and the pathogenic mechanisms in sensorineural hearing loss (SNHL).","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179812","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

Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals 近端 16p11.2 微缺失综合征的进一步界定：22 例新增个体的新发现

IF 2 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-11 DOI: 10.1002/ajmg.a.63873

Anne M. McRae, Jaime Duncan, Andy Drackley, Alexander Ing, Valerie Allegretti, Carolyn R. Raski, Angelique Mercier, Carlos E. Prada, Sarah Jurgensmeyer

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Let Us Care for the Rare 让我们关爱稀有动物

IF 2 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2024-09-11 DOI: 10.1002/ajmg.a.63866

Pragya Kafley

引用次数: 0