Case Reports in Genetics最新文献_第8页

Delayed Diagnosis of McCune-Albright Syndrome. mcune - albright综合征的延迟诊断。

Case Reports in Genetics Pub Date : 2021-12-10 eCollection Date: 2021-01-01 DOI: 10.1155/2021/2999349

Bereket Fantahun, Seblewongel Desta

引用次数: 0

Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion. 全外显子组测序鉴定出一种新的POLG移码变异在成人患者进行性眼外肌麻痹和线粒体DNA缺失。

Case Reports in Genetics Pub Date : 2021-11-05 eCollection Date: 2021-01-01 DOI: 10.1155/2021/9969071

Justin Kurtz, Joseph Americo Fernandes, Mahesh Mansukhani, William C Copeland, Ali B Naini

{"title":"Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion.","authors":"Justin Kurtz, Joseph Americo Fernandes, Mahesh Mansukhani, William C Copeland, Ali B Naini","doi":"10.1155/2021/9969071","DOIUrl":"10.1155/2021/9969071","url":null,"abstract":"Mitochondrial DNA (mtDNA) depletion syndromes are a group of autosomal recessive disorders associated with a spectrum of clinical diseases, which include progressive external ophthalmoplegia (PEO). They are caused by variants in nuclear DNA (nDNA) encoded genes, and the gene that encodes for mtDNA polymerase gamma (POLG) is commonly involved. A splice-site mutation in POLG, c.3104+3A > T, was previously identified in three families with findings of PEO, and studies demonstrated this variant to result in skipping of exon 19. Here, we report a 57-year-old female who presented with ophthalmoplegia, ptosis, muscle weakness, and exercise intolerance with a subsequent muscle biopsy demonstrating mitochondrial myopathy on histopathologic evaluation and multiple mtDNA deletions by southern blot analysis. Whole-exome sequencing identified the previously characterized c. 3104+3A > T splice-site mutation in compound heterozygosity with a novel frameshift variant, p.Gly23Serfs ∗ 236 (c.67_88del). mtDNA copy number analysis performed on the patient's muscle showed mtDNA depletion, as expected in a patient with biallelic pathogenic mutations in POLG. This is the first reported case with POLG p.Gly23Serfs ∗ 236, discovered in a patient presenting with features of PEO.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2021 ","pages":"9969071"},"PeriodicalIF":0.0,"publicationDate":"2021-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8589515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39877299","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

Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians. 亚洲-印度人骨质疏松症和骨质疏松症的重叠表型。

Case Reports in Genetics Pub Date : 2021-11-03 eCollection Date: 2021-01-01 DOI: 10.1155/2021/7133508

Parminder Kaur, Inusha Panigrahi, Harleen Kaur, Thakurvir Singh, Chakshu Chaudhry

引用次数: 2

The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature. 越南首例PTPN11突变所致豹综合征病例报告及文献复习

Case Reports in Genetics Pub Date : 2021-09-13 eCollection Date: 2021-01-01 DOI: 10.1155/2021/8197435

Hao Trong Nguyen, Nguyen Nhat Pham, Hoang Anh Vu, Tu Nguyen Anh Tran

{"title":"The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature.","authors":"Hao Trong Nguyen, Nguyen Nhat Pham, Hoang Anh Vu, Tu Nguyen Anh Tran","doi":"10.1155/2021/8197435","DOIUrl":"https://doi.org/10.1155/2021/8197435","url":null,"abstract":"LEOPARD syndrome is a rare congenital anomaly that involves several organs. Patients with this syndrome develop multiple lentigines resembling a leopard's hide. LEOPARD is an acronym of the major features constituting the syndrome including lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary valve stenosis, anomalies of genitalia, retardation of growth, and deafness. The syndrome is rare, and only 200 cases have been reported yet worldwide. We present the case of an 8-year-old female patient who visited the Ho Chi Minh City Hospital of Dermato-Venereology because of multiple brownish-black \"dots\" on her face and body. On examination, she also showed abnormalities in the maxillofacial bones, vertebrae, shoulders, sternum, and teeth, as well as deaf-mutism and growth retardation, which are typical of LEOPARD syndrome. Genetic analysis revealed a PTPN11 gene mutation in this case. To the best of our knowledge, this is the first case of LEOPARD syndrome reported in Vietnam.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2021 ","pages":"8197435"},"PeriodicalIF":0.0,"publicationDate":"2021-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8452451/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39440282","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

Corrigendum #2 to "Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review". “Shprintzen-Goldberg颅缝闭锁综合征的眼部表现:一个病例报告和系统评价”的勘误表#2。

Case Reports in Genetics Pub Date : 2021-08-28 eCollection Date: 2021-01-01 DOI: 10.1155/2021/9897523

Jamie H Choi, Rachel Li, Rachel Gannaway, Tahnee N Causey, Anna Harrison, Natario L Couser

引用次数: 0

Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion. 中心22q11.2微缺失的母子肺静脉连接完全异常。

Case Reports in Genetics Pub Date : 2021-06-10 eCollection Date: 2021-01-01 DOI: 10.1155/2021/5539855

Signe Faurschou, Dorte L Lildballe, Lisa L Maroun, Morten Helvind, Maria Rasmussen

{"title":"Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion.","authors":"Signe Faurschou, Dorte L Lildballe, Lisa L Maroun, Morten Helvind, Maria Rasmussen","doi":"10.1155/2021/5539855","DOIUrl":"https://doi.org/10.1155/2021/5539855","url":null,"abstract":"In this clinical report, we describe a male infant and his mother, who had similar congenital heart defects. They were both diagnosed neonatally with total anomalous pulmonary venous connection (TAPVC) in combination with other heart defects. Neither of the two had any other organ malformations or dysmorphic facial features. SNP-array identified a central 22q11.2 microdeletion in the male infant and his mother as well as in the maternal grandmother and maternal aunt. The mother and the maternal aunt additionally harbored a 15q11.2 BP1-BP2 microdeletion. The maternal grandmother was unaffected by heart disease. However, heart computed tomography scan of the maternal aunt revealed a quadricuspid aortic valve. Additionally, the maternal grandmother and the maternal aunt both had significant learning disabilities. Rarely, TAPVC has been described in patients with the common 22q11.2 microdeletions. However, to the best of our knowledge, TAPVC has not previously been reported in patients with this small central 22q11.2 microdeletion. Haploinsufficiency of TBX1 was originally thought to be the main cause of the 22q11.2 microdeletion syndrome phenotype, but TBX1 is not included in the atypical central 22q11.2 microdeletion. Previous reports have suggested an association between TAPVC and the 15q11.2 BP1-BP2 microdeletion. Our report does not support this association as the maternal aunt, who harbors both microdeletions, is unaffected by TAPVC, and the male infant affected by TAPVC does not harbor the 15q11.2 BP1-BP2 microdeletion. Our findings support that genes located in the central 22q11.2 region are important for heart development and that haploinsufficiency of these genes plays a crucial role in the development of the rare heart defect TAPVC.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2021 ","pages":"5539855"},"PeriodicalIF":0.0,"publicationDate":"2021-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8213480/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39148221","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

Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding 不平衡7;9易位的新表型与关键偶然发现

Case Reports in Genetics Pub Date : 2021-04-01 DOI: 10.1155/2022/7510079

Julie Fischer, L. Rohena

引用次数: 0

Genomic Characterization of Radiation-Induced Intracranial Undifferentiated Pleomorphic Sarcoma. 辐射诱导颅内未分化多形性肉瘤的基因组特征。

Case Reports in Genetics Pub Date : 2021-03-08 eCollection Date: 2021-01-01 DOI: 10.1155/2021/5586072

Christopher S Hong, Edwin Partovi, James Clune, Anita Huttner, Henry S Park, Sacit Bulent Omay

引用次数: 0

A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome. 高分辨率染色体微阵列分析在中国一名患有猫眼综合征的男孩中发现了新的sSMC(22)。

Case Reports in Genetics Pub Date : 2021-02-27 eCollection Date: 2021-01-01 DOI: 10.1155/2021/8824184

Jinjie Li, Yue Zhang, Yanjun Diao, Rui Li, Liqing Jiang, Lei Zhou, Jiayun Liu, Weixun Duan, Liu Yang

引用次数: 0

Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia. 斯里兰卡特发性共济失调患者的六种新型 ATM 基因变异。

Case Reports in Genetics Pub Date : 2020-12-09 eCollection Date: 2020-01-01 DOI: 10.1155/2020/6630300

D Hettiarachchi, Hetalkumar Panchal, B A P S Pathirana, P D Rathnayaka, A Padeniya, P S Lai, V H W Dissanayake

{"title":"Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia.","authors":"D Hettiarachchi, Hetalkumar Panchal, B A P S Pathirana, P D Rathnayaka, A Padeniya, P S Lai, V H W Dissanayake","doi":"10.1155/2020/6630300","DOIUrl":"10.1155/2020/6630300","url":null,"abstract":"Introduction: Ataxia telangiectasia is a rare genetic condition with an estimated prevalence of 1 in 40,000-100,000 live births. This condition predominantly affects the nervous and immune systems. It is characterized by progressive ataxia beginning from early childhood. The neurological deficit associated with this condition affects one's balance, coordination, walking, and speech and can be accompanied by chorea, myoclonus, and neuropathy. They may also have ocular telangiectasias and high levels of blood alpha-fetoprotein (AFP). The ataxia telangiectasia mutated gene (ATM) is associated with this condition and codes for the ATM protein which is a phosphatidylinositol 3-kinase. This gene occupies 150 kb on chromosome 11q22-23 and contains 66 exons encoding a 13 kb transcript. ATM is a relatively large protein with a molecular weight of 350 kDa and 3,056 amino acids.Methods: Four patients of Sri Lankan origin presenting with features suggestive of ataxia telangiectasia were referred to our genetics center for specialized genetic counseling and testing. Whole-exome sequencing followed by Sanger sequencing was used to confirm the candidate variants. Protein modeling and genotype to phenotype correlation was performed in the identified variants.Results: We observed 6 novel ATM gene variants in four patients with ataxia telangiectasia. The identified variants are as follows: homozygous c.7397C > A (p.Ala2466Glu) and c.510_511delGT (p.Tyr171fs) and compound heterozygous c.5347_5350delGAAA (p.Glu1783fs), c.8137A > T (p.Arg2713 ∗ ) and c.1163A > C (p.Lys388Thr), and c.5227A > C (p.Thr1743Pro). Variant analysis was followed by modeling of the native and altered protein structures.Conclusion: We report novel ATM gene variants that have implications on the molecular diagnosis of ataxia telangiectasia.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"6630300"},"PeriodicalIF":0.0,"publicationDate":"2020-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744220/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39110636","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