Case Reports in Genetics最新文献

Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India. 智力残疾与混合表型：来自印度北部一个中心的启示。

Case Reports in Genetics Pub Date : 2024-08-22 eCollection Date: 2024-01-01 DOI: 10.1155/2024/6009569

Inusha Panigrahi, Sudha Rao, Shalu Verma Kumar, Divya Kumari, Parminder Kaur

引用次数: 0

A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis. 通过分离分析发现的导致非综合征性胸主动脉瘤和夹层的新缺失MYLK变异体

Case Reports in Genetics Pub Date : 2024-08-16 eCollection Date: 2024-01-01 DOI: 10.1155/2024/4281972

Daigo Nishijo, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Norihiko Takeda, Issei Komuro

{"title":"A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis.","authors":"Daigo Nishijo, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Norihiko Takeda, Issei Komuro","doi":"10.1155/2024/4281972","DOIUrl":"10.1155/2024/4281972","url":null,"abstract":"Nonsyndromic hereditary thoracic aortic aneurysm and dissection (TAAD) is an autosomal dominant disease; however, it is frequently difficult to identify the causative genes. We report in this study a 33-year-old Japanese male with TAAD (Stanford type A) that is complicated with severe aortic regurgitation. There was no family history of aortic diseases in the patient nor any specific clinical features suggestive of connective tissue diseases, such as Marfan syndrome. Genetic testing identified candidate causative variants in two different genes: MYLK (c.4819G > A, p.[Gly1607Ser]) and FBN1 (c.365G > A, p.[Arg122His]). Familial cosegregation analysis revealed that the novel de novo MYLK variant was present only in the proband, and the FBN1 variant was also found in his nonaffected mother, and thus the MYLK variant was classified as likely pathogenic. MYLK is a causative gene for nonsyndromic TAAD that requires careful management; however, the number of reports is limited. Accumulating data on the pathogenicity of rare variants by performing a comprehensive pedigree analysis would help establish better treatment strategies for life-threatening hereditary TAAD cases.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11343627/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142056713","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

Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1. 由口腔-面部-数字综合征基因 OFD1 功能缺失变异引起的两例小儿原发性睫状肌运动障碍。

Case Reports in Genetics Pub Date : 2024-08-09 eCollection Date: 2024-01-01 DOI: 10.1155/2024/1595717

Yifei Xu, Yuki Tsurinaga, Tsubasa Matsumoto, Ryuji Muta, Taichi Yano, Hiroshi Sakaida, Sawako Masuda, Koki Ueda, Guofei Feng, Shimpei Gotoh, Satoru Ogawa, Makoto Ikejiri, Kaname Nakatani, Mizuho Nagao, Masaki Tanabe, Kazuhiko Takeuchi

引用次数: 0

Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis. 在智力发育障碍常染色体显性遗传 7 (MRD7) 中发现新型 DYRK1A 突变（c.524del）：综合病例分析。

Case Reports in Genetics Pub Date : 2024-07-30 eCollection Date: 2024-01-01 DOI: 10.1155/2024/2926555

Fiona Whitaker, Alvaro Serrano

引用次数: 0

Phenotype-Genotype Discordance and a Case of a Disorder of Sexual Differentiation. 表型-基因型不一致和一个性分化障碍病例。

Case Reports in Genetics Pub Date : 2024-07-17 eCollection Date: 2024-01-01 DOI: 10.1155/2024/9936936

Madeline Snipes, Stephanie Stokes, Amy Vidalin, Lee D Moore, Natalia Schlabritz-Lutsevich, James Maher

引用次数: 0

A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature. 一个患有 3-羟基异丁酰-CoA水解酶缺乏症并伴有严重高阴离子差酸中毒的足月婴儿死亡病例及文献综述。

Case Reports in Genetics Pub Date : 2024-06-30 eCollection Date: 2024-01-01 DOI: 10.1155/2024/8099373

Surasak Puvabanditsin, Ian Lee, Natasha Cordero, Keisha Target, Su Young Park, Rajeev Mehta

引用次数: 0

Quadruple Primary Malignancies over 2 Years with Germline Mutation in Krebs Cycle Enzyme Gene Fumarate Hydratase. 克雷布斯循环酶基因富马酸氢化酶的种系突变导致两年内四次原发性恶性肿瘤。

Case Reports in Genetics Pub Date : 2024-06-06 eCollection Date: 2024-01-01 DOI: 10.1155/2024/5591237

Solaleh Aminian, Fawaz Al-Alloosh, Fatemeh Yadegari, Shiva Zarinfam, Haider Hamza Al-Abedi, Keivan Majidzadeh-A

{"title":"Quadruple Primary Malignancies over 2 Years with Germline Mutation in Krebs Cycle Enzyme Gene Fumarate Hydratase.","authors":"Solaleh Aminian, Fawaz Al-Alloosh, Fatemeh Yadegari, Shiva Zarinfam, Haider Hamza Al-Abedi, Keivan Majidzadeh-A","doi":"10.1155/2024/5591237","DOIUrl":"10.1155/2024/5591237","url":null,"abstract":"Multiple primary cancers (MPCs) are defined as the presence of more than one cancer in an individual that is not due to recurrence, metastasis, or local spread. Different factors such as copathogenic genetic mutations, environmental factors, lifestyle, and first cancer treatment increase the possible occurrence of subsequent malignancies. In recent years, the risk of MPCs has increased due to improved treatment; however, quadruple primary malignancies are still rare and require further investigation and treatment of the underlying cause. Here, we present a 64-year-old man with a 40-year history of cigarette smoking who developed quadruple primary malignancies of the epiglottis, kidney, pancreas, and lung. To investigate the possible genetic cause, we performed WES, and a variant of c.580G > A (Ala194Thr) was discovered in exon 5 of the Krebs cycle enzyme gene, fumarate hydratase (FH). This substitution was classified as VUS in Clinvar and likely pathogenic by Varsome and Franklin software. The structural analysis showed that the variation found was localized in a highly conserved alpha helix in the D2 domain near the FH hinge region (<6 Å), suggesting that enzyme activity was affected by a perturbation in protein quaternary structure. Because of the well-established role of FH mutations in renal cancer risk, it was possible that the FH mutation could have led to the development of renal cell carcinoma in this case. The biological mechanisms of MPCs suggest that subsequent primary malignancies are triggered by the combined effects of environmental factors, such as smoking and genetics.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11175842/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141318502","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

Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein–Barr Virus 在一名由爱泼斯坦-巴氏病毒（Epstein-Barr Virus）引发的肌痛性脑脊髓炎/慢性疲劳综合征（ME/CFS）的白种女性患者中发现线粒体 DNA 错义突变 ChrMT: 8981A > G 和 ChrMT: 6268C > T

Case Reports in Genetics Pub Date : 2024-05-09 DOI: 10.1155/2024/6475425

Gaoyan G. Tang-Siegel, David W. Maughan, Milah B. Frownfelter, Alan R. Light

{"title":"Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein–Barr Virus","authors":"Gaoyan G. Tang-Siegel, David W. Maughan, Milah B. Frownfelter, Alan R. Light","doi":"10.1155/2024/6475425","DOIUrl":"https://doi.org/10.1155/2024/6475425","url":null,"abstract":"Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a multisystem disabling disease with unclear etiology and pathophysiology, whose typical symptoms include prolonged debilitating recovery from fatigue or postexertional malaise (PEM). Disrupted production of adenosine triphosphate (ATP), the intracellular energy that fuels cellular activity, is a cause for fatigue. Here, we present a long-term case of ME/CFS: a 75-year-old Caucasian female patient, whose symptoms of ME/CFS were clearly triggered by an acute infection of the Epstein–Barr virus 24 years ago (mononucleosis). Before then, the patient was a healthy professional woman. A recent DNA sequence analysis identified missense variants of mitochondrial respiratory chain enzymes, including ATP6 (ChrMT: 8981A > G; Q152R) and Cox1 (ChrMT: 6268C > T; A122V). Protein subunits ATP6 and Cox1 are encoded by mitochondrial DNA outside of the nucleus: the Cox1 gene encodes subunit 1 of complex IV (CIV: cytochrome c oxidase) and the ATP6 gene encodes subunit A of complex V (CV: ATP synthase). CIV and CV are the last two of five essential enzymes that perform the mitochondrial electron transport respiratory chain reaction to generate ATP. Further analysis of the blood sample using transmission electron microscopy demonstrated abnormal, circulating, extracellular mitochondria. These results indicate that the patient had dysfunctional mitochondria, which may contribute directly to her major symptoms, including PEM and neurological and cognitive changes. Furthermore, the identified variants of ATP6 (ChrMT: 8981A > G; Q152R) and Cox1 (ChrMT: 6268C > T; A122V), functioning at a later stage of mitochondrial ATP production, may play a role in the abnormality of the patient's mitochondria and the development of her ME/CFS symptoms.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140997805","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

Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein-Barr Virus. 在一名由 Epstein-Barr 病毒引发的肌痛性脑脊髓炎/慢性疲劳综合征 (ME/CFS) 的白种女性患者中发现线粒体 DNA 错义突变 ChrMT: 8981A > G 和 ChrMT: 6268C > T。

Case Reports in Genetics Pub Date : 2024-05-09 eCollection Date: 2024-01-01 DOI: 10.1155/2024/6475425

Gaoyan G Tang-Siegel, David W Maughan, Milah B Frownfelter, Alan R Light

{"title":"Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein-Barr Virus.","authors":"Gaoyan G Tang-Siegel, David W Maughan, Milah B Frownfelter, Alan R Light","doi":"10.1155/2024/6475425","DOIUrl":"https://doi.org/10.1155/2024/6475425","url":null,"abstract":"Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a multisystem disabling disease with unclear etiology and pathophysiology, whose typical symptoms include prolonged debilitating recovery from fatigue or postexertional malaise (PEM). Disrupted production of adenosine triphosphate (ATP), the intracellular energy that fuels cellular activity, is a cause for fatigue. Here, we present a long-term case of ME/CFS: a 75-year-old Caucasian female patient, whose symptoms of ME/CFS were clearly triggered by an acute infection of the Epstein-Barr virus 24 years ago (mononucleosis). Before then, the patient was a healthy professional woman. A recent DNA sequence analysis identified missense variants of mitochondrial respiratory chain enzymes, including ATP6 (ChrMT: 8981A > G; Q152R) and Cox1 (ChrMT: 6268C > T; A122V). Protein subunits ATP6 and Cox1 are encoded by mitochondrial DNA outside of the nucleus: the Cox1 gene encodes subunit 1 of complex IV (CIV: cytochrome c oxidase) and the ATP6 gene encodes subunit A of complex V (CV: ATP synthase). CIV and CV are the last two of five essential enzymes that perform the mitochondrial electron transport respiratory chain reaction to generate ATP. Further analysis of the blood sample using transmission electron microscopy demonstrated abnormal, circulating, extracellular mitochondria. These results indicate that the patient had dysfunctional mitochondria, which may contribute directly to her major symptoms, including PEM and neurological and cognitive changes. Furthermore, the identified variants of ATP6 (ChrMT: 8981A > G; Q152R) and Cox1 (ChrMT: 6268C > T; A122V), functioning at a later stage of mitochondrial ATP production, may play a role in the abnormality of the patient's mitochondria and the development of her ME/CFS symptoms.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11098598/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140960106","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

Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia 双侧青光眼可能是 PGAP3 相关性高磷血症的附加特征

Case Reports in Genetics Pub Date : 2024-03-23 DOI: 10.1155/2024/3561555

Osama Obaid, Reem Batawi, Heba Alqurashi, Thana Ewis, A. A. Obaid

引用次数: 0