Case Reports in Genetics最新文献_第10页

Case of Inherited Partial AZFa Deletion without Impact on Male Fertility 不影响男性生育能力的遗传性AZFa部分缺失病例

Case Reports in Genetics Pub Date : 2019-10-31 DOI: 10.1155/2019/3802613

B. Alkšere, D. Bērziņa, A. Dudorova, U. Conka, S. Andersone, E. Pimane, S. Krasucka, Arita Blumberga, A. Dzalbs, I. Grīnfelde, N. Vedmedovska, V. Fodina, J. Ērenpreiss

引用次数: 4

Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic Hypogonadism/Kallmann Syndrome 平行多基因面板检测诊断特发性促性腺功能减退/卡尔曼综合征

Case Reports in Genetics Pub Date : 2019-10-27 DOI: 10.1155/2019/4218514

M. Senthilraja, A. Chapla, F. Jebasingh, Dukhabhandhu Naik, T. Paul, N. Thomas

引用次数: 2

Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation. 解决一个在c.464G>a，p.Arg155His VCP突变中出现可变肩胛骨综合征的家族中的多代神经肌肉之谜。

Case Reports in Genetics Pub Date : 2019-10-09 eCollection Date: 2019-01-01 DOI: 10.1155/2019/2403024

Nivedita U Jerath

引用次数: 5

Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient 在沙特患者中鉴定与5-FU化疗严重毒性相关的新型DPYD多态性

Case Reports in Genetics Pub Date : 2019-08-21 DOI: 10.1155/2019/5150725

N. Bukhari, F. Azam, M. Alfawaz, M. Zahrani

引用次数: 6

Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome. 一个Gorlin综合征家族中导致三代脑膜瘤的新型SUFU移框变体。

Case Reports in Genetics Pub Date : 2019-07-28 eCollection Date: 2019-01-01 DOI: 10.1155/2019/9650184

Gustav Askaner, Ulrikke Lei, Birgitte Bertelsen, Alessandro Venzo, Karin Wadt

引用次数: 8

Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features 染色体3p倒置重复与末端缺失:第二个产后病例报告与额外的临床特征

Case Reports in Genetics Pub Date : 2019-07-25 DOI: 10.1155/2019/5384295

Jacquelyn D Riley, C. Stefaniuk, F. Erenberg, Angelika L Erwin, Lauren Palange, C. Astbury

{"title":"Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features","authors":"Jacquelyn D Riley, C. Stefaniuk, F. Erenberg, Angelika L Erwin, Lauren Palange, C. Astbury","doi":"10.1155/2019/5384295","DOIUrl":"https://doi.org/10.1155/2019/5384295","url":null,"abstract":"Distal deletions and duplications of 3p are individually well-characterized chromosome abnormalities. Here, we report an inverted duplication of 3p with an adjacent terminal 3p deletion in a 17-month-old girl who had prenatal intrauterine growth restriction and cardiac defects. Other findings included hemangiomas, neutropenia, umbilical hernia, hypotonia, gross motor delay, microcephaly, and ptosis. Family history was noncontributory. Microarray analysis revealed a 5.37 Mb deletion of chromosome bands 3p26.1 to 3p26.3 and a 13.68 Mb duplication of 3p24.3 to 3p26.1. FISH analysis confirmed that the duplication was inverted. Upon literature review, only one postnatal patient and one second trimester pregnancy have been reported with this finding. Many of our patient's features are present in both 3p deletion and 3p duplication syndromes, including congenital heart disease, growth restriction, microcephaly, hypotonia, and developmental delay. Our patient has additional features not commonly reported in 3p deletion or duplication patients, such as aortic dilation, hemangiomas, and neutropenia. The identification of this patient contributes to additional understanding of features associated with concurrent deletion and inverted duplication in the distal 3p chromosome. This report may assist clinicians working with patients who have constellations of similar features or similar cytogenomic abnormalities.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85316267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes NOG的一个起始密码子变异是影响母猴和镫骨的听骨链畸形的基础

Case Reports in Genetics Pub Date : 2019-07-22 DOI: 10.1155/2019/2836263

N. Lindquist, Eric N Appelbaum, Anushree Acharya, J. Vrabec, S. Leal, I. Schrauwen

{"title":"A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes","authors":"N. Lindquist, Eric N Appelbaum, Anushree Acharya, J. Vrabec, S. Leal, I. Schrauwen","doi":"10.1155/2019/2836263","DOIUrl":"https://doi.org/10.1155/2019/2836263","url":null,"abstract":"We performed exome sequencing to evaluate the underlying molecular cause of a patient with bilateral conductive hearing loss due to multiple ossicular abnormalities as well as symphalangism of the fifth digits. This leads to the identification of a novel heterozygous start codon variant in the NOG gene (c.2T>C:p.Met1?) that hinders normal translation of the noggin protein. Variants in NOG lead to a spectrum of otologic, digit, and joint abnormalities, a combination suggested to be referred to as NOG‐related‐symphalangism spectrum disorder (NOG‐SSD). Conductive hearing loss from such variants may stem from stapes footplate ankylosis, fixation of the malleoincudal joint, or fixation of the incus short process. In this case, the constellation of both stapes and incus fixation, an exceptionally tall stapes suprastructure, thickened long process of the incus, and enlarged incus body was encountered, leading to distinct challenges during otologic surgery to improve hearing thresholds. This case highlights multiple abnormalities to the ossicular chain in a patient with a start codon variant in NOG. We provide detailed imaging data on these malformations as well as surgical considerations and outcomes.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82137831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Increasing Evidence for the Association of Breast Implant-Associated Anaplastic Large Cell Lymphoma and Li Fraumeni Syndrome 越来越多的证据表明乳房植入物相关间变性大细胞淋巴瘤和李氏综合征相关

Case Reports in Genetics Pub Date : 2019-07-16 DOI: 10.1155/2019/5647940

J. Adlard, C. Burton, P. Turton

引用次数: 25

Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder. 尼曼-匹克病:一种未确诊的溶酶体贮积症。

Case Reports in Genetics Pub Date : 2019-04-21 eCollection Date: 2019-01-01 DOI: 10.1155/2019/3108093

Inusha Panigrahi, Manoj Dhanorkar, Renu Suthar, Chanchal Kumar, Mullai Baalaaji, Babu Ram Thapa, Jasvinder Kalra

引用次数: 7

First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism. 先前已知导致先天性高胰岛素血症的ABCC8突变功能丧失引起的糖尿病表型的第一份报告。

Case Reports in Genetics Pub Date : 2019-04-11 eCollection Date: 2019-01-01 DOI: 10.1155/2019/3654618

Theocharis Koufakis, Amalia Sertedaki, Elizabeth-Barbara Tatsi, Christina-Maria Trakatelli, Spyridon N Karras, Eleni Manthou, Christina Kanaka-Gantenbein, Kalliopi Kotsa

{"title":"First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism.","authors":"Theocharis Koufakis, Amalia Sertedaki, Elizabeth-Barbara Tatsi, Christina-Maria Trakatelli, Spyridon N Karras, Eleni Manthou, Christina Kanaka-Gantenbein, Kalliopi Kotsa","doi":"10.1155/2019/3654618","DOIUrl":"https://doi.org/10.1155/2019/3654618","url":null,"abstract":"Monogenic Diabetes is relatively rare, representing only 1-2% of total diabetes cases; nevertheless, it is often misdiagnosed primarily as type 1 diabetes, leading to unnecessary insulin therapy and delayed recognition of affected family members. In the present article, we describe a case of a young, male patient who presented with hyperglycemia in the absence of ketosis and following genetic testing; he proved to harbor the loss-of-function p.Arg1353His (c.4058G>A) mutation in the ABCC8 gene, inherited from his mother. This mutation has been previously described in patients with Congenital Hyperinsulinism. Furthermore, different mutations in the ABCC8 gene have been linked with MODY 12, type 2, and gestational diabetes; however, to the best of our knowledge, this is the first report that associates this specific mutation with diabetes phenotype. ABCC8-related diabetes is characterized by remarkable heterogeneity in terms of clinical presentation and therapeutic approach. Early diagnosis and individualized treatment are essential to achieving metabolic targets and avoiding long-term diabetes complications.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2019/3654618","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37259996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 16