Journal of genetic syndromes & gene therapy最新文献_第7页

A Novel Nonsense Mutation p.L9X in the SRY Gene Causes Complete Gonadal Dysgenesis in a 46,XY Female Patient SRY基因中一种新的无义突变p.L9X导致46,XY女性患者完全性腺发育不良

Journal of genetic syndromes & gene therapy Pub Date : 2016-08-08 DOI: 10.4172/2157-7412.1000300

A. Tajouri, Maryem M’sahli, S. Hizem, L. B. Jemaa, F. Maazoul, R. Mrad, H. Chaabouni, M. Kharrat

{"title":"A Novel Nonsense Mutation p.L9X in the SRY Gene Causes Complete Gonadal Dysgenesis in a 46,XY Female Patient","authors":"A. Tajouri, Maryem M’sahli, S. Hizem, L. B. Jemaa, F. Maazoul, R. Mrad, H. Chaabouni, M. Kharrat","doi":"10.4172/2157-7412.1000300","DOIUrl":"https://doi.org/10.4172/2157-7412.1000300","url":null,"abstract":"Mammalian sex is determined by a gene localized on the Y chromosome known as SRY (sex-determining region of the Y chromosome). SRY is a transcription factor that plays a key role in the initiation of the cascade of male sexual differentiation. In 46,XY humans, SRY mutations cause complete gonadal dysgenesis (CGD) with male to female sex reversal, which results in female genitalia without testis differentiation. The aim of this study was to look for mutations of SRY gene in a 46,XY CGD Tunisian female patient by direct sequencing. This method allowed us to identify a novel nonsense mutation L9X, occurring within the NH2 terminal domain of SRY. This novel mutation led to the appearance of a premature stop codon, resulting in a truncated protein, missing the entire HMG box functional domain and the COOH terminal domain. Because of an increased risk of developing gonadoblastoma, early molecular diagnosis allows the orientation of the clinical supervision by removing the dysgenetic gonads to prevent gonadal malignancy. Furthermore, it provides valuable information for the understanding of molecular mechanisms behind the gonadal dysgenesis.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"7 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2016-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76963568","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

Zebularine-Resistant Human Cytidine Deaminase Mutants for Optimal Chemoprotection of Hematopoietic Stem Cells 抗斑马碱人胞苷脱氨酶突变体对造血干细胞的最佳化学保护

Journal of genetic syndromes & gene therapy Pub Date : 2016-08-08 DOI: 10.4172/2157-7412.1000302

Hongmei Ruan, M. Black

引用次数: 2

The Measles Virus Expression Correlates with Classical Hodgkin Lymphoma and Other Malignancies. A Short Commentary 麻疹病毒表达与经典霍奇金淋巴瘤和其他恶性肿瘤相关简短的评论

Journal of genetic syndromes & gene therapy Pub Date : 2016-08-08 DOI: 10.4172/2157-7412.1000301

D. Benharroch

引用次数: 1

Transmission of Bacteria during Cystic Fibrosis Educational Programs 囊性纤维化教育项目中细菌的传播

Journal of genetic syndromes & gene therapy Pub Date : 2016-06-27 DOI: 10.4172/2157-7412.1000299

N. Nørskov-Lauritsen, P. O. Schiøtz

{"title":"Transmission of Bacteria during Cystic Fibrosis Educational Programs","authors":"N. Nørskov-Lauritsen, P. O. Schiøtz","doi":"10.4172/2157-7412.1000299","DOIUrl":"https://doi.org/10.4172/2157-7412.1000299","url":null,"abstract":"CF is a progressive, lethal disease characterized by mucous build-up in the airways and a continuous annual deterioration of lung function. The host inflammatory response is considered a central pathological feature and constitutes an important target for non-steroidal anti-inflammatory drug therapy. Airway obstruction and bacterial colonization may cause inflammation, or it may be attributable to dysfunction of the cystic fibrosis transmembrane conductance regulator. Educational programs for this group of patients increase the compliance and quality-of-life, but cystic fibrosis patients have been recommended to abstain from attendance for concerns of microbial cross infection. When guidelines for optimal hand and respiratory hygiene and cough etiquette are observed in professionally supervised CF educational programs, an increased risk of bacterial transmission has not been documented. A recommendation to avoid indoor educational events with fellow CF patients must be weighed against the benefits of educational and rehabilitation programs. Further investigations are required to clarify the relative contribution of microbiological and genetic factors to the progression of CF lung disease.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":" 23","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2016-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72381154","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: 3

Role of Genetic Testing in Lung Transplantation; Prediction of Inflammation 基因检测在肺移植中的作用炎症预测

Journal of genetic syndromes & gene therapy Pub Date : 2016-06-08 DOI: 10.4172/2157-7412.1000298

Mohamed S. A. Mohamed

引用次数: 7

Noninvasive Prenatal Detection of a Partial Trisomy 4 Using Whole Genome Semiconductor Sequencing 利用全基因组半导体测序无创产前检测部分4三体

Journal of genetic syndromes & gene therapy Pub Date : 2016-05-20 DOI: 10.4172/2157-7412.1000297

I. Gómez-Manjón, A. Moreno-Izquierdo, M. Moreno-García, D. Escribano, F. J. Fernández-Martínez

引用次数: 3

Clastogen-Induced Chromosomal Breakage Analysis of Suspected Fanconis Anemia Cases of Kashmir, North India 印度北部克什米尔地区疑似Fanconis贫血病例破胚原致染色体断裂分析

Journal of genetic syndromes & gene therapy Pub Date : 2016-05-17 DOI: 10.4172/2157-7412.1000295

T. M. Malla, M. Zargar, F. Dar, Z. Shah

{"title":"Clastogen-Induced Chromosomal Breakage Analysis of Suspected Fanconis Anemia Cases of Kashmir, North India","authors":"T. M. Malla, M. Zargar, F. Dar, Z. Shah","doi":"10.4172/2157-7412.1000295","DOIUrl":"https://doi.org/10.4172/2157-7412.1000295","url":null,"abstract":"Clastogen induced chromosome breakage analysis is widely used for the differential diagnosis of Fanconi's anemia. Mitomycin-C (MMC) induced chromosome fragility test was performed on the cultured lymphocytes of 50 children with clinical suspicion of Fanconi's anemia. According to the results of the MMC test, the patients were divided into two subgroups: FA displaying typical sensitivity to MMC and non FA. The present study revealed 7(14%) of examined patients to have a FA cellular phenotype with increased MMC-induced chromosome fragility. The percentage of MMC-induced aberrant cells was increased more than 36 times in FA patients (Mean=67.14%) when compared to non FA patients (Mean=1.82). The number of MMC-induced breaks/cells was more than 09 times higher in FA patients (Mean=2.42 breaks/cell) when compared to non FA patients (Mean=0.25 breaks/cells). Our results indicate that the clastogen induced sensitivity test is a reliable in vitro method for verification of the FA cellular phenotype. The study being the first of its kind from Kashmir (North India) lays the basis for further studies on patients of this region with a clinical suspicion of FA.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"17 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2016-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82878656","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: 3

Syndrome Raine, A Rare Autosomal Recessive Dysplasia Sclerotic Osteoarthritis, the First Reports of a New Mutation of Tabriz City in IRAN Raine综合征，一种罕见的常染色体隐性发育不良硬化性骨关节炎，首次报道伊朗大不里士市的一种新突变

Journal of genetic syndromes & gene therapy Pub Date : 2016-05-17 DOI: 10.4172/2157-7412.1000296

S. Asadi, Ali Nazirzadeh, Elnaz Heydari, Saeedeh Habibi

{"title":"Syndrome Raine, A Rare Autosomal Recessive Dysplasia Sclerotic Osteoarthritis, the First Reports of a New Mutation of Tabriz City in IRAN","authors":"S. Asadi, Ali Nazirzadeh, Elnaz Heydari, Saeedeh Habibi","doi":"10.4172/2157-7412.1000296","DOIUrl":"https://doi.org/10.4172/2157-7412.1000296","url":null,"abstract":"Syndrome Raine, a severe skeletal dysplasia is usually caused the deaths of patients aged newborn. There are reports that patients with a milder form of the disease to live longer and have reached the age of a child. Radiological surveys show an increase in bone density generalized sclerosis and osteoarthritis. Bone density at the base of the skull, causing changes in the craniofacial skeleton, leading to specific dysmorphic signs in the figures. Symptoms of the disease include prominent forehead, proptosis, nasal root sunk, hypoplastic middle part of the face, hypoplastic nose, mouth, triangular, Atresia Cowan and intracranial calcification. Bone density in the disease so that the disease osteopetrosis is wrong. Raine syndrome is an autosomal recessive hereditary disease, which is caused by mutations in the gene is FAM20C. This gene encodes a protein that phosphorylase-kinase activity has been implicated in bio-mineralization. In this study, a patient with Raine syndrome is introduced from Iran. Based on available information, this patient is the first known case in Iran reported. Molecular analysis of the patient, a homozygous mutation new were identified. Already known about the patient's seventeenth in the world.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"41 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2016-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76796468","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: 5

Torticollis in 15q11.2 Microdeletion Syndrome: a Rare Association in Angelman-like Syndromes 微缺失综合征:天使样综合征的罕见关联

Journal of genetic syndromes & gene therapy Pub Date : 2016-05-05 DOI: 10.4172/2157-7412.1000294

T. Szabó, A. Ujfalusi, B. Bessenyei, G. Szabó, K. Szakszon, I. Balogh, É. Oláh

{"title":"Torticollis in 15q11.2 Microdeletion Syndrome: a Rare Association in Angelman-like Syndromes","authors":"T. Szabó, A. Ujfalusi, B. Bessenyei, G. Szabó, K. Szakszon, I. Balogh, É. Oláh","doi":"10.4172/2157-7412.1000294","DOIUrl":"https://doi.org/10.4172/2157-7412.1000294","url":null,"abstract":"15q11-13 chromosome region contains five breakpoints (BP1-BP5). Chromosomal rearrangements are common in this region. The microdeletion of BP1-BP2 region represents the 15q11.2 microdeletion syndrome associating with variable phenotype. We investigated a ten years old boy with hypotony. His motoric functions, speech and intellectual development were delayed. He suffered from epilepsy and showed dysmorphic features. Some of these dysmorphic features such us epicanthus and the clynodactyly of the fifth fingers can be observed in Angelman or Prader-Willi syndromes but have not been described in the 15q11.2 microdeletion syndrome so far. He has congenital torticollis that has been described earlier neither in this microdeletion syndrome nor in Prader-Willi - Angelman syndromes. Our aim is to find the possible mechanisms leading to the phenotype using Metilation Specific - Multi Ligand Probe Assay, Polimerase Chain Reaction and Array Comparative Genomic Hybridization. The 15q11.2 microdeletion syndrome represents an example for the incomplete penetrance and variable expressivity. Further genetic changes, such as other defective genes, further copy number variations, variability in non-coding regions, the mRNA quantity, environmental effects and epigenetic modification may also influence on the severity of the symptoms. We suggest to classify the symptoms into two groups (major and minor criteria). Depending on the existing minor criteria, this syndrome could be identified as Angelman-like or Prader-Willi-like syndromes.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"27 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2016-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75336719","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: 1

Adeno-Associated Virus (AAV)-2 Genome in Arthrobacter sp. LS16? 节肢杆菌sp. LS16的腺相关病毒(AAV)-2基因组

Journal of genetic syndromes & gene therapy Pub Date : 2016-04-15 DOI: 10.4172/2157-7412.1000293

S. Arumugam, Jayandharan Gr

引用次数: 1