Case Reports in Genetics最新文献_第7页

The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease. 法布里病早期与晚期治疗干预的益处

Case Reports in Genetics Pub Date : 2022-01-01 DOI: 10.1155/2022/3208810

Mónica Furlano, Elisabet Ars, Anna Matamala, Vicens Brossa, Joan Martí, Maria Del Prado-Venegas, Jaume Crespi, Esther Roe, Roser Torra

{"title":"The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease.","authors":"Mónica Furlano, Elisabet Ars, Anna Matamala, Vicens Brossa, Joan Martí, Maria Del Prado-Venegas, Jaume Crespi, Esther Roe, Roser Torra","doi":"10.1155/2022/3208810","DOIUrl":"https://doi.org/10.1155/2022/3208810","url":null,"abstract":"Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants of the GLA gene. Heterozygous female patients may show much more variability in clinical manifestations, ranging from asymptomatic to full-blown disease. Because of this heterogeneous clinical picture in women, the diagnosis of FD has typically been delayed for more than a decade, and the optimal time to initiate treatment remains controversial. Case Presentation. Here, we present two unrelated female patients diagnosed with FD harbouring the same pathogenic GLA variant. We discuss the implications of initiating specific therapy at different stages of the disease, with and without organ involvement (early versus late therapeutic intervention).Conclusions: These clinical cases suggest that initiating specific treatment at an earlier age in women with FD may prevent organ involvement and associated clinical events.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2022 ","pages":"3208810"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9822754/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10874717","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

A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene. 中国4型痉挛性截瘫伴SPAST基因从头突变1例

Case Reports in Genetics Pub Date : 2021-12-14 eCollection Date: 2021-01-01 DOI: 10.1155/2021/6636855

Li Xu, Zijuan Peng, Chunhui Zhou, Jiqing Wang, Hunjin Luo, Qin Lu, Zhengjun Bao

{"title":"A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene.","authors":"Li Xu, Zijuan Peng, Chunhui Zhou, Jiqing Wang, Hunjin Luo, Qin Lu, Zhengjun Bao","doi":"10.1155/2021/6636855","DOIUrl":"https://doi.org/10.1155/2021/6636855","url":null,"abstract":"Background: Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. Case Presentation. We report the case of a 27-year-old pregnant Chinese woman with HSP in whom we identified a missense mutation in the SPAST gene (c.1496G>A, p.Arg499His) and a nonsense mutation in the NEFH gene (c.289G>T, p.Glu97 ∗ ) via whole-exome sequencing; this finding corroborated that of Sanger sequencing. The patient exhibited the pure SPG4 phenotype with onset during childhood. The SPAST mutation was absent in the parents and paternal relatives. However, the NEFH mutation was identified in five people with no clinical phenotype. Based on theoretical conjecture and the family gene segregation information, we concluded that the SPAST mutation, but not the NEFH mutation, accounted for the proband's phenotype. Eventually, the woman gave birth to a healthy baby girl with the NEFH mutation.Conclusion: In this report, we identified a missense mutation in the SPAST gene (p.Arg499His) in a 27-year-old pregnant Chinese woman with HSP. We believe that this study expands the knowledge about the clinical parameters and mutation spectrum of SPG4.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2021 ","pages":"6636855"},"PeriodicalIF":0.0,"publicationDate":"2021-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8692052/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39759846","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

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