Case Reports in Genetics最新文献_第5页

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant 菲律宾婴儿Rubinstein-Taybi综合征与一种新的CREBBP基因致病变异

Case Reports in Genetics Pub Date : 2022-05-21 DOI: 10.1155/2022/3388879

Rhea Camille R. Yumul, M. A. Chiong

引用次数: 0

Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad 卡恩斯-塞尔综合征减:两例相同的大规模线粒体DNA缺失与经典三联征外的表现

Case Reports in Genetics Pub Date : 2022-04-23 DOI: 10.1155/2022/4153357

Shir Wey Gloria Pang, Hencher Han Chih Lee, Carol Ng Wing kei, E. Yau, J. Hui

引用次数: 0

Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma 4例高分化和去分化脂肪肉瘤巨环或棒状标记染色体的细胞基因组学特征

Case Reports in Genetics Pub Date : 2022-04-12 DOI: 10.1155/2022/6341207

Hongyan Chai, Fang Xu, Autumn Diadamo, Brittany Grommisch, Huanzhi Mao, Peining Li

引用次数: 1

Microdeletion of 4p16.2 in Children: A Case Report and Literature Review 儿童4p16.2微缺失1例并文献复习

Case Reports in Genetics Pub Date : 2022-04-09 DOI: 10.1155/2022/6253690

Yanjie Qian, Xiaoying Wang, Wei Tang, Chaochun Zou

引用次数: 0

A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy 白点眼底合并严重黄斑萎缩患者RDH5基因的一种新的致病变异

Case Reports in Genetics Pub Date : 2022-04-06 DOI: 10.1155/2022/1183772

H. You, David I Sierpina

{"title":"A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy","authors":"H. You, David I Sierpina","doi":"10.1155/2022/1183772","DOIUrl":"https://doi.org/10.1155/2022/1183772","url":null,"abstract":"Purpose To report a novel 11-cis retinol dehydrogenase gene (RDH5) variant discovered in a 57-year-old male with fundus albipunctatus (FA) complicated by severe macular atrophy. Methods The patient was evaluated with a complete ophthalmic examination, optical coherence tomography (OCT), color fundus photography, green wavelength fundus autofluorescence, visual field testing, full-field ERG (ffERG), and multifocal ERG (mfERG). Genetic analysis investigating gene variants involved in inherited retinal disorders was performed. Results The patient presented with a rapid decline in visual acuity and a history of poor night vision. On fundoscopy, he exhibited a phenotype characteristic of FA accompanied by severe macular atrophy bilaterally. Heterozygous variants in the RDH5 gene were identified, including a novel missense variant, c.814_815del (p.Leu272Aspfs∗63), and a known pathogenic nonsense variant, c.160C > T (p.Arg54∗). Fundus autofluorescence demonstrated bull's eye maculopathy and hyperautofluorescent perifoveal rings bilaterally. OCT showed foveal atrophy of the outer retina and scattered hyper-reflective lesions in the peripheral macula. The ffERG results showed a severely diminished scotopic and photopic response. The mfERG results demonstrated minimal response in the central macula. Conclusions Fundus albipunctatus is a rare, congenital form of stationary night blindness caused almost exclusively by the RDH5 gene. This patient's clinical presentation, diagnostic studies, and genetic testing confirmed the diagnosis of FA. Additionally, he exhibited severe macular atrophy, not typically found in FA. Two RDH5 gene variants were identified, one of which is the novel variant, c.814_815del (p.Leu272Aspfs∗63). We suggest that this RDH5 genotype may be associated with a more progressive phenotype of FA contributing to macular atrophy.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85610988","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

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis 疾病机制:隐性ADAMTSL4突变与晶状体异位的颅缝闭闭

Case Reports in Genetics Pub Date : 2022-03-26 DOI: 10.1155/2022/3239260

Jonas A. Gustafson, Maria Bjork, C. V. van Ravenswaaij-Arts, M. Cunningham

{"title":"Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis","authors":"Jonas A. Gustafson, Maria Bjork, C. V. van Ravenswaaij-Arts, M. Cunningham","doi":"10.1155/2022/3239260","DOIUrl":"https://doi.org/10.1155/2022/3239260","url":null,"abstract":"Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development. These TGFb pathway-associated craniosynostosis syndromes include Loeys–Dietz syndrome (LDS) and Shprintzen–Goldberg syndrome (SGS). LDS and SGS have many similarities common to fibrillinopathies, specifically Marfan syndrome (MFS), which is caused by mutations in FBN1. Historically discriminating features of MFS from LDS and SGS are (1) the presence of ectopia lentis (the subluxation/dislocation of the ocular lens) and (2) the absence of craniosynostosis. Curiously, several instances of a seemingly novel syndrome involving only craniosynostosis and ectopia lentis have recently been reported to be caused by recessive mutations in ADAMTSL4, a poorly characterized gene as of yet. Here, we report on two new cases of craniosynostosis with ectopia lentis, each harboring recessive mutations in ADAMTSL4. We also discuss a proposed mechanism for the relationship between ADAMTSL4, FBN1, and TGFb pathway-related syndromes.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79319102","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: 2

The Efficacy of Anti-Tumor Necrosis Factor Therapy in Cryopyrin-Associated Periodic Syndromes: A Report of Two Cases 抗肿瘤坏死因子治疗冷冻素相关周期综合征2例疗效观察

Case Reports in Genetics Pub Date : 2022-03-03 DOI: 10.1155/2022/2898553

F. Tahghighi, Mahdieh Vahedi, N. Parvaneh, Mohammad Shahrooei, V. Ziaee

引用次数: 1

The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation 缺失的LNK:多发性硬化症和种系SH2B3突变患者从细胞增生到慢性髓单细胞白血病的进化

Case Reports in Genetics Pub Date : 2022-03-01 DOI: 10.1155/2022/6977041

Krishna Gundabolu, B. Dave, C. Alvares, J. J. Cannatella, V. Bhatt, L. Maness, Z. Al-Kadhimi, R. Zabad, A. Cushman-Vokoun

{"title":"The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation","authors":"Krishna Gundabolu, B. Dave, C. Alvares, J. J. Cannatella, V. Bhatt, L. Maness, Z. Al-Kadhimi, R. Zabad, A. Cushman-Vokoun","doi":"10.1155/2022/6977041","DOIUrl":"https://doi.org/10.1155/2022/6977041","url":null,"abstract":"Chronic myelomonocytic leukemia (CMML) is a rare but distinct hematological neoplasm with overlapping features of myelodysplastic syndrome (MDS) and myeloproliferative neoplasm (MPN). Individuals with CMML have persistent monocytosis and bone marrow dyspoiesis associated with various constitutional symptoms like fevers, unintentional weight loss, or night sweats. It is established that there is a strong association of CMML with preceding or coexisting autoimmune diseases and systemic inflammatory syndromes affecting around 20% of patients. Various molecular abnormalities like TET2, SRSF2, ASXL1, and RAS are reported in the pathogenesis of CMML, but no such mutations have been described to explain the strong association of autoimmune diseases and severe inflammatory phenotype seen in CMML. Germline mutation in SH2B adaptor protein 3 (SH2B3) had been reported before to affect a family with autoimmune disorders and acute lymphoblastic leukemia. In this report, we describe the first case of a female subject with many years of preceding history of multiple sclerosis before the diagnosis of CMML. We outline the evidence supporting the pathogenic role of SH2B3 p.E395K germline mutation, connecting the dots of association between autoimmune diseases and CMML genesis.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82471148","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

Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature. 法伯病模拟青少年特发性关节炎:卡塔尔首例报道病例及文献回顾。

Case Reports in Genetics Pub Date : 2022-02-10 eCollection Date: 2022-01-01 DOI: 10.1155/2022/2555235

Amal Al-Naimi, Haneen Toma, Sara G Hamad, Tawfeg Ben Omran

{"title":"Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature.","authors":"Amal Al-Naimi, Haneen Toma, Sara G Hamad, Tawfeg Ben Omran","doi":"10.1155/2022/2555235","DOIUrl":"https://doi.org/10.1155/2022/2555235","url":null,"abstract":"Farber disease (FD) is an extremely rare autosomal recessive disorder caused by the deficiency of lysosomal acid ceramidase. It is characterized by a triad of progressive multiple joints' involvement, subcutaneous nodules, and hoarseness of voice. In this report, we describe a 23-month-old boy diagnosed with Farber disease. Initially, he was misdiagnosed as juvenile idiopathic arthritis (JIA) because he presented with joint swelling. However, the associated hoarseness of voice, subcutaneous nodules, and poor response to treatment all have questioned the diagnosis of JIA and prompted the suspicion of Farber disease as an alternative diagnosis. The diagnosis was later confirmed genetically by the presence of a homozygous pathogenic variant (p.Gly213Glu; c.638G > A in exon 8) in the ASAH1 gene. The present case illustrates the diagnostic journey of a child with Farber disease as well as highlights that FD should be considered in the differential diagnosis of early onset arthritis in the presence of subcutaneous nodules and/or hoarseness of voice.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8853810/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39940403","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: 4

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