Balkan journal of medical genetics : BJMG最新文献

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Clinical Next Generation Sequencing Reveals an H3F3A Gene as a New Potential Gene Candidate for Microcephaly Associated with Severe Developmental Delay, Intellectual Disability and Growth Retardation. 临床下一代测序揭示H3F3A基因是严重发育迟缓、智力残疾和生长迟缓相关的小头症的新潜在候选基因

IF 0.6

Balkan journal of medical genetics : BJMG Pub Date : 2019-12-21 eCollection Date: 2019-12-01 DOI: 10.2478/bjmg-2019-0028

A Maver, G Čuturilo, Stojanović J Ruml, B Peterlin

{"title":"Clinical Next Generation Sequencing Reveals an H3F3A Gene as a New Potential Gene Candidate for Microcephaly Associated with Severe Developmental Delay, Intellectual Disability and Growth Retardation.","authors":"A Maver, G Čuturilo, Stojanović J Ruml, B Peterlin","doi":"10.2478/bjmg-2019-0028","DOIUrl":"https://doi.org/10.2478/bjmg-2019-0028","url":null,"abstract":"Microcephaly is characterized by significant clinical and genetic heterogeneity, therefore reaching the genetic diagnosis remains challenging in this group of disorders. We describe a case of a girl with secondary microcephaly, associated with severe developmental delay, intellectual disability, growth retardation and dysmorphic features. For purposes of clinical genetic diagnostic testing, we performed trio whole exome sequencing in the proband and unaffected parents. We found a heterozygous de novo missense variant in the H3F3A gene in the proband (NM_ 002107.4: c.185T>G), which is absent from the gnomAD and from the Slovenian Genome databases. The identified variant affects a highly conserved leucine residue at position 62 of the histone H3 protein (H3.3) and is predicted to affect the physicochemical properties of the affected protein. Mouse models, which demonstrated involvement of H3.3 protein in the control of neuronal- and glial-specific gene expression patterns that control synaptic connectivity and behavioral plasticity. Additionally, we also identified similar cases reported in the ClinVar database. These arguments support the possible pathogenic role of the reported genetic variant and thus suggest a novel molecular mechanism for this syndromic form of microcephaly.","PeriodicalId":520567,"journal":{"name":"Balkan journal of medical genetics : BJMG","volume":" ","pages":"65-68"},"PeriodicalIF":0.6,"publicationDate":"2019-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/31/99/bjmg-22-065.PMC6956640.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37547329","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: 15

TWIST1 Gene Expression as a Biomarker for Predicting Primary Doxorubicin Resistance in Breast Cancer. TWIST1基因表达作为预测乳腺癌原发性阿霉素耐药的生物标志物

IF 0.6

Balkan journal of medical genetics : BJMG Pub Date : 2019-12-21 eCollection Date: 2019-12-01 DOI: 10.2478/bjmg-2019-0025

S Demir, M H Müslümanoğlu, M Müslümanoğlu, S Başaran, Z Z Çalay, A Aydıner, U Vogt, T Çakır, H Kadıoğlu, S Artan

{"title":"TWIST1 Gene Expression as a Biomarker for Predicting Primary Doxorubicin Resistance in Breast Cancer.","authors":"S Demir, M H Müslümanoğlu, M Müslümanoğlu, S Başaran, Z Z Çalay, A Aydıner, U Vogt, T Çakır, H Kadıoğlu, S Artan","doi":"10.2478/bjmg-2019-0025","DOIUrl":"https://doi.org/10.2478/bjmg-2019-0025","url":null,"abstract":"Doxorubicin is one of the most commonly used chemotherapeutic agents for adjuvant chemotherapy of breast cancer. In the studies focused on finding biomarkers to predict the response of the patients and tumors to the drugs used, the Twist transcription factor has been suggested as a candidate biomarker for predicting chemo-resistance of breast tumors. In this study, we aimed to investigate the relationship between TWIST transcription factor expression and the effectiveness of doxorubicin treatment on directly taken primary tumor samples from chemotherapy-naive breast cancer patients. Twenty-six primary breast tumor samples taken from 26 different breast cancer patients were included in this study. Adenosine triphosphate tumor chemo-sensitivity assay (ATP-TCA) has been used to determine tumor response to doxorubicin and real-time reverse-transcription polymerase chain reaction (RT-PCR) was used for analyzing the TWIST1 gene expression of tumors. There was a significant difference in TWIST gene expression between responder and non responder tumors (p <0.05). The TWIST gene expression of the drug-resistant group was higher than the responsive group. This difference was not dependent on the histopathological features of tumors. In conclusion, compatible with earlier studies that have been performed with cell lines, the current study supports the role of higher TWIST gene expression as a biomarker for predicting the response of breast tumors to chemo-therapeutic agent doxorubicin.","PeriodicalId":520567,"journal":{"name":"Balkan journal of medical genetics : BJMG","volume":" ","pages":"25-30"},"PeriodicalIF":0.6,"publicationDate":"2019-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5e/64/bjmg-22-025.PMC6956638.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37547903","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

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