Case Reports in Genetics最新文献_第3页

A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant. 一种新的致病变异的cdk13相关疾病的产前表现

Case Reports in Genetics Pub Date : 2023-01-01 DOI: 10.1155/2023/3437706

Michael Gibbs, Alysa Poulin, Yanwei Xi, Bita Hashemi

引用次数: 0

Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America. 单基因COL4A1突变引起的缺血性卒中复发:拉丁美洲首例报告。

Case Reports in Genetics Pub Date : 2023-01-01 DOI: 10.1155/2023/6614837

Emilio Israel Wong-Valenzuela, Daniel San Juan, José Santos Zambrano, Alejandra Camacho Molina, Miguel Angel Morales-Morales, Alejandro Lopez-Landa

引用次数: 0

Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus. 新的TTN突变引起严重的先天性肌病和与婴儿脑积水的不确定关联。

Case Reports in Genetics Pub Date : 2023-01-01 DOI: 10.1155/2023/5535083

Palanikumar Balasundaram, Indirapriya Darshini Avulakunta, Leslie Delfiner, Paul Levy, Katie R Forman

引用次数: 2

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1. ATN1标准hx基序外的新生变异个体的先天性张力低下和发育迟缓1例。

Case Reports in Genetics Pub Date : 2023-01-01 DOI: 10.1155/2023/1581876

Elizaveta Makarova, Nicole R Legro, Ermal Aliu

{"title":"A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1.","authors":"Elizaveta Makarova, Nicole R Legro, Ermal Aliu","doi":"10.1155/2023/1581876","DOIUrl":"https://doi.org/10.1155/2023/1581876","url":null,"abstract":"We present a case of a 4-year-old female with a de novo heterozygous variant in the ATN1 gene. The whole exome sequencing was performed on the patient and her parents, and a likely pathogenic, de novo variant was identified in exon 5 of the ATN1 gene. There are two well-documented conditions associated with the ATN1 gene: congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) syndrome and dentatorubral-pallidoluysian atrophy (DRPLA). Unlike DRPLA which is caused by an expanded trinucleotide repeat, CHEDDA syndrome is caused by variants in the histidine-rich (HX) motif at exon 7 of ATN1 similar to the de novo variant found in exon 5 of the presented individual. CHEDDA syndrome is a neurodevelopmental disorder previously documented in over 17 unrelated individuals. Compared to other documented CHEDDA syndrome cases, this individual shares similarities in respect to hypotonia, hearing impairment, impaired gross and fine motor ability, gastrointestinal abnormalities, hyperextensible joints, and frontal bossing. However, the individual presented here has only a moderate developmental delay and has acquired more developmental milestones such as higher-level language skills and more developed fine motor skills, than previously described individuals. The authors of this paper believe the patient's milder phenotype may be due to the variant's location outside of the canonic HX motif.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845047/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10551742","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

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":null,"pages":null},"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":null,"pages":null},"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