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Molecular Genetics & Genomic Medicine

Mikhlid Almutairi, Abdullah Mohammad Alhadeq, Rafa Almeer, Mohammed Almutairi, Mohammed Alzahrani, Abdelhabib Semlali
BACKGROUND: Thymine-DNA glycosylase (TDG) is an essential DNA-repair enzyme which works in both epigenetic regulation and genome maintenance. It is also responsible for efficient correction of multiple endogenous DNA lesions which occur commonly in mammalian genomes. Research of genetic variants such as SNPs, resulting in disease, is predicted to yield clinical advancements through the identification of sensitive genetic markers and the development of disease prevention and therapy. To that end, the main objective of the present study is to identify the possible interactions between cigarette smoking and the rs4135050 variant of the TDG gene, situated in the intron position, among Saudi individuals...
February 18, 2019: Molecular Genetics & Genomic Medicine
Yuqin Luo, Bei Jia, Kai Yan, Siping Liu, Xiaojie Song, Mingfa Chen, Fan Jin, Yang Du, Juan Wang, Yan Hong, Sha Cao, Dawei Li, Minyue Dong
BACKGROUND: The noninvasive prenatal testing (NIPT) has been successfully used in the clinical screening of fetal trisomy 13, 18, and 21 in the last few years and researches on detecting sub-chromosomal copy number variations (CNVs) and monogenic diseases are also in progress. To date, multiple tests are needed in order to complete a full set of fetus disorder screening, which is costly and time consuming. Therefore, an integrated 3-in-1 NIPT approach will be in great demand by routine clinical practice in the near future...
February 14, 2019: Molecular Genetics & Genomic Medicine
Emilie Lalonde, Jessica Ebrahimzadeh, Keith Rafferty, Jennifer Richards-Yutz, Richard Grant, Erik Toorens, Jennifer Marie Rosado, Erica Schindewolf, Tapan Ganguly, Jennifer M Kalish, Matthew A Deardorff, Arupa Ganguly
BACKGROUND: Somatic overgrowth conditions, including Proteus syndrome, Sturge-Weber syndrome, and PIK3CA-related overgrowth spectrum, are caused by post-zygotic pathogenic variants, result in segmental mosaicism, and give rise to neural, cutaneous and/or lipomatous overgrowth. These variants occur in growth-promoting pathways leading to cellular proliferation and expansion of tissues that arise from the affected cellular lineage. METHODS: We report on 80 serial patients evaluated for somatic overgrowth conditions in a diagnostic laboratory setting, including three prenatal patients...
February 13, 2019: Molecular Genetics & Genomic Medicine
Haojie Yang, Jiong Wu, Jingjing Zhang, Zhigang Yang, Wei Jin, Ying Li, Lei Jin, Lu Yin, Hua Liu, Zhenyi Wang
BACKGROUND: Colon cancer is one of most malignant cancers around worldwide. Nearly 20% patients were diagnosed at colon cancer with metastasis. However, the lack of understanding regarding its pathogenesis brings difficulties to study it. METHODS: In this study, we acquired high-sequence data from GEO dataset, and performed integrated bioinformatic analysis including differently expressed genes, gene ontology and Kyoto Encyclopedia of Genes and Genomes pathways analysis, protein-protein analysis, survival analysis to analyze the development of colon cancer...
February 11, 2019: Molecular Genetics & Genomic Medicine
Yinghong Zhang, Yangyang Chen, Hongmei Qu, Yuanli Wang
BACKGROUND: Gestational diabetes mellitus (GDM) is defined as any degree of glucose intolerance during pregnancy, and will lead to high risk of diabetes even after pregnancy. Hypoxia-inducible factor (HIF) family proteins are transcriptional factors that are highly correlated with methylation, which might be involved in the regulation of GDM. METHODS: Baseline clinical characteristics of the GDM patients and healthy women were analyzed. Omental tissue from GDM patients and control groups were collected and detected for the expression levels of HIF1A, HIF2A, and HIF3A...
February 11, 2019: Molecular Genetics & Genomic Medicine
He Huang, Zhao-Fei Zhang, Feng-Wei Qin, Wang Tang, Dong-Hua Liu, Pei-Yu Wu, Feng Jiao
BACKGROUND: This study focused on the mechanisms where icariin inhibited chondrocyte apoptosis and angiogenesis by regulating the TDP-43 signaling pathway. METHODS: A rat osteoarthritis (OA) model was established by collagenase injection. Histological examination of the articular cartilage and synovial tissue was performed 6 weeks after operation. Cartilage cell line overexpressing TDP-43 and mesenchymal stem cell line (TDP43-MSCs) of the rat TDP43 gene were established...
February 7, 2019: Molecular Genetics & Genomic Medicine
Torsten Kraya, Dagmar Quandt, Thorsten Pfirrmann, Andrea Kindermann, Leonie Lampe, Matthias L Schroeter, Jürgen Kohlhase, Dietrich Stoevesandt, Katrin Hoffmann, Pablo Villavicencio-Lorini
BACKGROUND: Colony-stimulating factor 1 receptor is a tyrosine kinase transmembrane protein that mediates proliferation, differentiation, and survival of monocytes/macrophages and microglia. CSF1R gene mutations cause hereditary diffuse leukoencephalopathy with spheroids (HDLS), an autosomal-dominantly inherited microgliopathy, leading to early onset dementia with high lethality. METHODS: By interdisciplinary assessment of a complex neuropsychiatric condition in a 44-year old female patient, we narrowed down the genetic diagnostic to CSF1R gene sequencing...
February 6, 2019: Molecular Genetics & Genomic Medicine
Nan Tan, Jiangjiang Song, Mengdan Yan, Jiamin Wu, Yao Sun, Zichao Xiong, Yipeng Ding
BACKGROUND: In China, lung cancer is also the most commonly diagnosed cancer with a lower 5-year survival rate, leading to high social burdens. Recently, many studies highlighted the importance of inflammation in the initiation and progression of cancer. The goal of this study was to investigate the association between interleukin-4 (IL-4, OMIM#147780) single nucleotide polymorphisms (SNPs) and lung cancer susceptibility. METHODS: A case-control study was conducted in a Chinese population including 199 male patients with lung cancer and 266 healthy men...
February 6, 2019: Molecular Genetics & Genomic Medicine
Xinran Cheng, Fang Tang, Xuyun Hu, Hongduo Li, Mengting Li, Yiyong Fu, Li Yan, Zhonghui Li, Peng Gou, Na Su, Chunzhu Gong, Weilan He, Rong Xiang, Dongmei Bu, Yiping Shen
BACKGROUND: Heterozygous mutations in the AT-hook DNA-binding motif containing one (AHDC1, OMIM * 615790) gene cause an autosomal dominant multisystem developmental disorder known as Xia-Gibbs syndrome (OMIM #615829). Xia-Gibbs syndrome typically presented with global developmental delay, hypotonia, obstructive sleep apnea, seizures, delayed myelination, micrognathia, and other mild dysmorphic features. METHODS: Description of the clinical materials of two Chinese boys who were diagnosed with Xia-Gibbs syndrome based on clinical presentations and next generation sequencing...
February 6, 2019: Molecular Genetics & Genomic Medicine
Siddharth Srivastava, Tejasvi Niranjan, Melanie M May, Patrick Tarpey, William Allen, Anna Hackett, Pierre-Simon Jouk, Lucy Raymond, Slyvain Briault, Cindy Skinner, Annick Toutain, Jozef Gecz, William Heath, Roger E Stevenson, Charles E Schwartz, Tao Wang
BACKGROUND: Mutations in mediator of RNA polymerase II transcription subunit 12 homolog (MED12, OMIM 300188) cause X-linked intellectual disability (XLID) disorders including FG, Lujan, and Ohdo syndromes. The Gli3-dependent Sonic Hedgehog (SHH) signaling pathway has been implicated in the original FG syndrome and Lujan syndrome. How are SHH-signaling defects related to the complex clinical phenotype of MED12-associated XLID syndromes are not fully understood. METHODS: Quantitative RT-PCR was used to study expression levels of three SHH-signaling genes in lymophoblast cell lines carrying four MED12 mutations from four unrelated XLID families...
February 6, 2019: Molecular Genetics & Genomic Medicine
Rosa L Schellevis, Elon H C van Dijk, Myrte B Breukink, Jan E E Keunen, Gijs W E Santen, Carel B Hoyng, Eiko K de Jong, Camiel J F Boon, Anneke I den Hollander
BACKGROUND: Central serous chorioretinopathy (CSC) is a chorioretinal disease characterized by fluid accumulation between the neuroretina and retinal pigment epithelium with unknown etiology. Family studies have suggested a heritable component for CSC with an autosomal dominant inheritance pattern. Therefore, exome sequencing was performed on familial cCSC to indentify the genetic components contributing to familial cCSC. METHODS: Exome sequencing was performed on 72 individuals of 18 families with CSC...
February 6, 2019: Molecular Genetics & Genomic Medicine
Javier Cotignola, Sandra Rozental, Noemí Buzzalino, Liliana Dain
In this letter, we want to add information to the paper "Genetics and genomic medicine in Argentina" that we considered it was lacking. Argentina is a big country with inequalities in the access to public health care, especially in medical genetics and genomics.
February 5, 2019: Molecular Genetics & Genomic Medicine
Stuti Prakash, Andrea Mattiotti, Marc Sylva, Barbara J M Mulder, Alex V Postma, Maurice J B van den Hoff
BACKGROUND: Follistatin-like 1 (Fstl1) is a glycoprotein expressed throughout embryonic development. Homozygous loss of Fstl1 in mice results in skeletal and respiratory defects, leading to neonatal death due to a collapse of the trachea. Furthermore, Fstl1 conditional deletion from the endocardial/endothelial lineage results in postnatal death due to heart failure and profound atrioventricular valve defects. Here, we investigated patients with phenotypes similar to the phenotypes observed in the transgenic mice, for variants in FSTL1...
February 5, 2019: Molecular Genetics & Genomic Medicine
Hongqin Chen, Yanping Zhang, Li Dai, Yaping Song, Yanyun Wang, Bin Zhou, Rong Zhou
BACKGROUND: Preeclampsia is a serious pregnancy-specific syndrome with incompletely understood pathogenesis. Previous study has demonstrated that the decreased CXCR2 in preeclamptic placentas may contribute to the development of preeclampsia. The role of single nucleotide polymorphisms (SNPs) of CXCR2 gene in the pathogenesis of preeclampsia remains largely unexplored. Thus, we aimed to investigate the association between polymorphisms of CXCR2 gene and preeclampsia in Han Chinese women...
February 3, 2019: Molecular Genetics & Genomic Medicine
Nianwei Zhou, Jie Cui, Weipeng Zhao, Yingying Jiang, Wenqing Zhu, Lu Tang, Xuejie Li, Minmin Sun, Cuizhen Pan, Xianhong Shu
BACKGROUND: Danon disease is an X-linked dominant hereditary condition caused by mutations in the gene encoding lysosomal-associated membrane protein 2 (LAMP2), leading to failure of lysosome binding to autophagosomes, accumulation of glycogen in the heart, and abnormal cardiac function. METHODS: We describe identification of a mutation in LAMP2, c.741+1G>T, in a family with Danon disease by whole exome sequencing. RESULTS: Pathology examination of patient skeletal muscle biopsy showed myogenic damage and autophagic vacuoles with sarcolemmal features (AVSF)...
February 3, 2019: Molecular Genetics & Genomic Medicine
Maryam Talepoor Ardakani, Mahsa Rostamian Delavar, Masoud Baghi, Mohammad Hossein Nasr-Esfahani, Abbas Kiani-Esfahani, Kamran Ghaedi
BACKGROUND: Parkinson's disease (PD) is ranked as the second most common neurodegenerative disorder caused by loss of dopaminergic neurons in the substantia nigra. Micro(mi)RNAs are a class of small noncoding RNAs that regulate gene expression and aberrant expression of them is closely correlated with many neurodegenerative conditions including PD. Silent information regulator 1 (SIRT1) as a known deacetylase and B-cell lymphoma-2 (BCL2) as an antiapoptotic factor play vital roles in neural protection and survival...
February 3, 2019: Molecular Genetics & Genomic Medicine
Vanessa Di Gioacchino, Sylvie Langlois, Alison M Elliott
BACKGROUND: Just as there is inconsistency with respect to coverage of genomic testing with insurance carriers, there is interprovincial discrepancy in Canada. Consequently, the option of private pay (e.g., self pay) arises, which can lead to inequities in access, particularly when patients may not be aware of this option. There are currently no published data regarding how the Canadian genetics community handles discussions of private pay options with patients. The purpose of this study was to assess the attitudes of genetic healthcare professionals (GHPs: medical geneticists, genetic counselors, and genetic nurses) practicing in Canada toward these discussions...
February 2, 2019: Molecular Genetics & Genomic Medicine
Carrie Guy, Farnoosh Haji-Sheikhi, Charles M Rowland, Ben Anderson, Renius Owen, Felicitas L Lacbawan, Damian P Alagia
BACKGROUND: We evaluated the performance of a cell-free DNA (cfDNA) prenatal screening assay for trisomies 21, 18, and 13, and sex chromosome aneuploidies (SCAs) among a population of pregnant women that included both those at average and high risk. METHODS: Specimen collection, cfDNA extraction, massively parallel sequencing, and bioinformatics analysis were conducted per laboratory protocol. Assay results, concordance with pregnancy outcomes, and performance characteristics were evaluated...
January 31, 2019: Molecular Genetics & Genomic Medicine
Yi Tang, Qi Qin, Yi Xing, Dongmei Guo, Li Di, Jianping Jia
BACKGROUND: Mutations in the mitochondrial alanyl-transfer (t)RNA synthetase 2 (AARS2,OMIM:612035) have been linked to leukoencephalopathy recently. Till now, there have been 19 cases reported so far. However, the clinical and genetic characteristics of this disease are not fully understood. We reported an adult-onset male leukoencephalopathy patient related to novel AARS2 gene mutations and reviewed all previous cases regarding the clinical and genetic features of AARS2 leukoencephalopathy...
January 31, 2019: Molecular Genetics & Genomic Medicine
Negin Naderi, Maryam Peymani, Kamran Ghaedi
BACKGROUND: Breast cancer is one of the most common types of cancer among women and the highest cause of death due to cancer among women aged 40-45. SNPs can be used to identify disease-related genes such as cancer as they can be genetic markers. Furthermore, SNPs in the molecular-level miRNA structure are also associated with a set of cancers. Studies have shown that miR-323b plays a tumor suppressor role by reducing the tissues and serum of the affected individuals. So far, no study regarding rs56103835 polymorphism in the precursor of miR-323b has been conducted in the breast cancer...
January 31, 2019: Molecular Genetics & Genomic Medicine
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