Case Reports in Genetics最新文献_第7页

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

A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson's Disease with Dementia. MAPT基因的一种特殊双倍型H1j/H2可能是帕金森病伴痴呆的原因。

Case Reports in Genetics Pub Date : 2020-12-03 eCollection Date: 2020-01-01 DOI: 10.1155/2020/8813344

Imane Smaili, Imane Hajjaj, Rachid Razine, Houyam Tibar, Ayyoub Salmi, Naima Bouslam, Ahmed Moussa, Wafa Regragui, Ahmed Bouhouche

{"title":"A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson's Disease with Dementia.","authors":"Imane Smaili, Imane Hajjaj, Rachid Razine, Houyam Tibar, Ayyoub Salmi, Naima Bouslam, Ahmed Moussa, Wafa Regragui, Ahmed Bouhouche","doi":"10.1155/2020/8813344","DOIUrl":"https://doi.org/10.1155/2020/8813344","url":null,"abstract":"Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer disease. Five to ten percent of patients have monogenic form of the disease, while most of sporadic PD cases are caused by the combination of genetic and environmental factors. Microtubule-associated protein tau (MAPT) has been appointed as one of the most important risk factors for several neurodegenerative diseases including PD. MAPT is characterized by an inversion in chromosome 17 resulting in two distinct haplotypes H1 and H2. Studies described a significant association of MAPT H1j subhaplotype with PD risk, while H2 haplotype was associated with Parkinsonism, particularly to its bradykinetic component. We report here an isolated case displaying an akinetic-rigid form of PD, with age of onset of 41 years and a good response to levodopa, who developed dementia gradually during the seven years of disease progression. The patient does not carry the LRRK2 G2019S mutation, copy number variations, nor pathogenic and rare variants in known genes associated with PD. MAPT subhaplotype genotyping revealed that the patient has the H1j/H2 diplotype, his mother H1j/H1j, his two healthy brothers H1j/H1v and his deceased father was by deduction H1v/H2. The H1j/H2 diplotype was shown in a total of 3 PD patients among 80, who also did not have known PD-causing mutation and in 1 out of 92 healthy individual controls. The three patients with this diplotype all have a similar clinical phenotype. Our results suggest that haplotypes H1j and H2 are strong risk factor alleles, and their combination could be responsible for early onset of PD with dementia.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"8813344"},"PeriodicalIF":0.0,"publicationDate":"2020-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38733501","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: 2

Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation. p.Thr58Arg取代RHO突变家族ADRP的多模态成像特征

Case Reports in Genetics Pub Date : 2020-12-02 eCollection Date: 2020-01-01 DOI: 10.1155/2020/8860863

Misty Ruppert, John Pyun, K V Chalam, David Sierpina

{"title":"Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation.","authors":"Misty Ruppert, John Pyun, K V Chalam, David Sierpina","doi":"10.1155/2020/8860863","DOIUrl":"https://doi.org/10.1155/2020/8860863","url":null,"abstract":"Background: Autosomal dominant retinitis pigmentosa (adRP) is a rare cause of progressive visual impairment in young patients and is frequently a result of RHO gene mutations. p.Thr58Arg rhodopsin mutation leads to misfolding of rhodopsin, subsequent accumulation in the endoplasmic reticulum, and leads to consecutive atrophy of photoreceptor cells through apoptosis.Materials and methods: We describe multimodal imaging findings in a 58-year-old female with adRP due to a c.173 C > G, p.Thr58Arg rhodopsin mutation (confirmed on genotyping), including ultra-wide-field fundus autofluorescence (UWF-FAF), color scanning laser ophthalmoscopy, structural optical coherence tomography (OCT), OCT-angiography (OCT-A), electroretinography (ERG), and visual field testing (HVF). Additionally, we compare the patient's phenotypic findings to those of her offspring, who was also affected by adRP.Results: The 58-year-old female and her son with symptoms of nyctalopia and decreased vision showed macular pigmentary changes in a bull's-eye pattern along with bone spicules in periphery with retinal atrophy. Genotyping confirmed p.Thr58Arg rhodopsin mutation. Wide area of dystrophic retina was noted on UWF-FAF, along with corresponding atrophy of photoreceptor layer on OCT. OCTA revealed complete nonperfusion of the superficial capillary plexus in areas of retinal dystrophy. ERG revealed increased latency and decreased amplitudes; HVF revealed constriction of visual fields consistent with retinal findings.Conclusions: Multimodal imaging is extremely helpful in delineating the extent of retinal dystrophy and comparable to ERG for monitoring of progress in retinitis pigmentosa. Photoreceptor layer thickness (measured with OCT) strongly correlated with ERG and can be used as a secondary surrogate for monitoring the disease progress.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"8860863"},"PeriodicalIF":0.0,"publicationDate":"2020-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7969344/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25525090","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

Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin. 腮腺源性唾液腺肿瘤19例细胞基因组异常分析。

Case Reports in Genetics Pub Date : 2020-12-02 eCollection Date: 2020-01-01 DOI: 10.1155/2020/8897541

Marie Zerjav, Autumn DiAdamo, Brittany Grommisch, Amato Katherine, Hongyan Chai, Gang Peng, Peining Li

引用次数: 1