Case Reports in Genetics最新文献_第4页

Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele. 脐膨出和脑膨出相关的8p23.1重复综合征的产前致死诊断。

Case Reports in Genetics Pub Date : 2023-01-01 DOI: 10.1155/2023/5958223

Melissa A Hicks, Salah Ebrahim, Bernard Gonik

引用次数: 0

Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β-Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran. β-珠蛋白基因C -19 G > C和C - 315 + 1 G > A变异的共遗传导致地中海贫血病:来自伊朗北部的报告

Case Reports in Genetics Pub Date : 2023-01-01 DOI: 10.1155/2023/9950421

Hossein Jalali, Mahan Mahdavi, Mohammad Eslamijouybari, Mohammad Reza Mahdavi

{"title":"Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β-Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran.","authors":"Hossein Jalali, Mahan Mahdavi, Mohammad Eslamijouybari, Mohammad Reza Mahdavi","doi":"10.1155/2023/9950421","DOIUrl":"https://doi.org/10.1155/2023/9950421","url":null,"abstract":"Up to now, more than 300 pathogenic variants have been identified in the β-globin gene, some of which are categorized as silent mutations that do not change the hematological indices. In the present study, our aim is to introduce the first report of a case with thalassemia intermedia with coinheritance of the c.315 + 1 G > A pathogenic variant and a silent variant (HBB: c.-19 G > C) that was missed during the screening program. Multiplex-Gap-PCR and Sanger sequencing methods were applied to identify α- and β-globin gene mutations in a 26-year-old male subject with diagnosis of thalassemia. The identified mutations were also checked on the parent's sample. The CBC and capillary electrophoresis tests were performed on the parent's blood samples. The case was compound heterozygote for the c.315 + 1 G > A and c.-19 G > C (rs1239893012) variants. The subject's mother carried the c.-19 G > C variant in the β-globin gene while her CBC and electrophoresis test results showed a normal pattern. Silent mutations are susceptible to being missed during premarital screening of β-thalassemia carriers, and the c.-19 G > C variant is recommended to be classified as a pathogenic variant in the β-globin gene.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2023 ","pages":"9950421"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10477025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10160230","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: 0

45, X/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer Syndrome. 45, X/ 46, X, psu - idic (Y) (q11.2)嵌合现象在原发性闭经合并Swyer综合征的女孩中的应用。

Case Reports in Genetics Pub Date : 2023-01-01 DOI: 10.1155/2023/9127512

Yu Han, Jiebin Wu, Fangfang Tan, Jing Sha, Bei Zhang, Jingfang Zhai, Xuezhen Wang

引用次数: 0

Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup). ARX基因突变c.558_560dup p.(Pro187dup)的成人患者的智力残疾、肌张力障碍和帕金森病的表现。

Case Reports in Genetics Pub Date : 2023-01-01 DOI: 10.1155/2023/3636748

Maria Arvio, Jaana Lähdetie, Hannu Koivu, Antti Sohlberg, Eero Pekkonen

{"title":"Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup).","authors":"Maria Arvio, Jaana Lähdetie, Hannu Koivu, Antti Sohlberg, Eero Pekkonen","doi":"10.1155/2023/3636748","DOIUrl":"https://doi.org/10.1155/2023/3636748","url":null,"abstract":"We describe a 38-year-old male patient with intellectual disability and progressive motor symptoms who lacked an etiological diagnosis for many years. Finally, clinical exome sequencing showed a likely pathogenic variant of the ARX gene suggesting Partington syndrome. His main symptoms were mild intellectual disability, severe kinetic apraxia, resting and action tremor, dysarthria, tonic pupils, constant dystonia of one upper limb, and focal dystonia in different parts of the body, axial rigidity, spasticity, epilepsy, and poor sleep. Another likely pathogenic gene variant was observed in the PKP2 gene and is in accordance with the observed early cardiomyopathy. Single-photon emission computed tomography imaging of dopamine transporters showed a reduced signal in the basal ganglia consistent with Parkinson's disease. Therapies with a variable number of drugs, including antiparkinsonian medications, have yielded poor responses. Our case report extends the picture of the adult phenotype of Partington syndrome.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2023 ","pages":"3636748"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9935879/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10771667","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: 0

4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay. 4q25微缺失与Axenfeld-Rieger综合征和发育迟缓。

Case Reports in Genetics Pub Date : 2023-01-01 DOI: 10.1155/2023/4592114

Yukino Kawanami, Tomoko Horinouchi, Naoya Morisada, Takeshi Kato, Kandai Nozu

引用次数: 0

A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy. 常染色体隐性5型智力发育障碍伴癫痫1例。

Case Reports in Genetics Pub Date : 2022-11-14 eCollection Date: 2022-01-01 DOI: 10.1155/2022/4056780

Mahpara Hasan, Gayatra Mainali, Ermal Aliu, Sita Paudel

引用次数: 0

A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice. 新生儿COL4A1突变诊断为出血性梗死和严重黄疸。

Case Reports in Genetics Pub Date : 2022-10-14 eCollection Date: 2022-01-01 DOI: 10.1155/2022/1594364

Akihiro Kirimura, Hajime Yasuhara, Soshi Hachisuka, Kumiko Takagi, Reiko Ebisu, Ayako Ohgitani, Hideki Minowa

引用次数: 0

Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case. 纯合子常染色体隐性突变与中枢神经系统受累和曲霉病有关:一例罕见病例。

Case Reports in Genetics Pub Date : 2022-09-29 eCollection Date: 2022-01-01 DOI: 10.1155/2022/4142214

Hossein Esmaeilzadeh, Rafat Noeiaghdam, Leila Johari, Seyed Ali Hosseini, Sayyed Hesamedin Nabavizadeh, Soheila Sadat Alyasin

{"title":"Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case.","authors":"Hossein Esmaeilzadeh, Rafat Noeiaghdam, Leila Johari, Seyed Ali Hosseini, Sayyed Hesamedin Nabavizadeh, Soheila Sadat Alyasin","doi":"10.1155/2022/4142214","DOIUrl":"https://doi.org/10.1155/2022/4142214","url":null,"abstract":"The DIAPH1 gene fulfills critical immune and neurodevelopmental roles. It encodes the mammalian Diaphanous-related formin (mDia1) protein, which acts downstream of Rho GTPases to promote F-actin polymerization and stabilize microtubules. During mitosis, this protein is expressed in human neuronal precursor cells and considerably affects spindle formation and cell division. In humans, dominant gain-of-function DIAPH1 variants cause sensorineural deafness and macrothrombocytopenia (DFNA1), while homozygous DIAPH1 loss leads to seizures, cortical blindness, and microcephaly syndrome (SCBMS). To date, only 16 patients with SCBMS have been reported, none of whom were from Iran. Furthermore, aspergillosis is yet to be reported in patients with homozygous DIAPH1 loss, and the link between SCBMS and immunodeficiency remains elusive. In this study, we shed further light on this matter by reporting the clinical, genetic, and phenotypic characteristics of an Iranian boy with a long history of recurrent infections, diagnosed with SCBMS and immunodeficiency (NM_005219.5 c.3145C > T; p.R1049X variant) following aspergillosis and SARS-CoV-2 coinfection.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":" ","pages":"4142214"},"PeriodicalIF":0.0,"publicationDate":"2022-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9537009/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33496369","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: 1

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion. BAP1基因全缺失导致的BAP1肿瘤易感综合征。

Case Reports in Genetics Pub Date : 2022-09-13 eCollection Date: 2022-01-01 DOI: 10.1155/2022/5503505

Dinusha Pandithan, Sonja Klebe, Grace McKavanagh, Lesley Rawlings, Sui Yu, Jillian Nicholl, Nicola Poplawski

引用次数: 3

An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine. 吡哆醇依赖癫痫的不典型表现诊断为全外显子组测序和赖氨酸限制和补充精氨酸和吡哆醇治疗。

Case Reports in Genetics Pub Date : 2022-08-30 eCollection Date: 2022-01-01 DOI: 10.1155/2022/7138435

Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J Vernon

{"title":"An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine.","authors":"Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J Vernon","doi":"10.1155/2022/7138435","DOIUrl":"https://doi.org/10.1155/2022/7138435","url":null,"abstract":"Pyridoxine dependent-developmental and epileptic encephalopathy (PD-DEE) or pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in ALDH7A1. It classically presents as intractable infantile-onset seizures unresponsive to multiple antiepileptic drugs (AEDs) but with a profound response to large doses of pyridoxine (B6). We report a case of PDE with an atypical clinical presentation. The patient presented at 3 days of life with multifocal seizures, fever, increased work of breathing, decreased left ventricular systolic function, and lactic acidosis, raising suspicion for a mitochondrial disorder or infectious process. Within 1.5 weeks of presentation, seizure activity resolved with antiepileptic therapy. Whole exome sequencing (WES) revealed homozygous pathogenic variants in ALDH7A1 (c.1279G > C, p.E427Q) and confirmed the diagnosis of PDE. Follow-up biochemical testing demonstrated elevated urine pipecolic acid. In the second week of life, the patient was initiated on triple therapy, including pyridoxine supplementation, low lysine diet, and arginine supplementation, which he tolerated well. Urine pipecolic acid levels responded accordingly after initiation of therapy. Our case illustrates the diagnostic challenges in PDE, the utility of rapid WES in such cases, and the response in urine pipecolic acid to therapy.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":" ","pages":"7138435"},"PeriodicalIF":0.0,"publicationDate":"2022-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9448604/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33455502","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: 0