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BMC Medical Genetics

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https://www.readbyqxmd.com/read/28619046/identification-of-a-novel-ctcf-mutation-responsible-for-syndromic-intellectual-disability-a-case-report
#1
Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Ethar Mustafa Malik, Mustafa Helmi, Mahmoud Taleb Al-Ali, Abdul Rezzak Hamzeh
BACKGROUND: Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MRD21 is caused by mutations in CCCTC-binding factor (CTCF) and this was established through only four unrelated cases, two of which had frameshift mutations. CTCF is a master transcriptional regulator that controls chromatin structure and may serve as insulator and transcriptional activator and repressor...
June 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28610567/mlpa-identification-of-dystrophin-mutations-and-in-silico-evaluation-of-the-predicted-protein-in-dystrophinopathy-cases-from-india
#2
Sekar Deepha, Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Atchayaram Nalini, Narayanappa Gayathri, Meera Purushottam
BACKGROUND: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. The aim of this study was to predict the effect of gene mutations on the dystrophin protein and study its impact on clinical phenotype. METHODS: In this study, 415 clinically diagnosed patients were tested for mutations by Multiplex ligation dependent probe amplification (MLPA). Muscle biopsy was performed in 34 patients with negative MLPA...
June 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28595636/two-novel-c-terminal-frameshift-mutations-in-the-%C3%AE-globin-gene-lead-to-rapid-mrna-decay
#3
Katarzyna Rawa, Roman J Szczesny, Ewelina P Owczarek, Anna Adamowicz-Salach, Anna Klukowska, Urszula Demkow, Danuta Plochocka, Pawel Szczesny, Monika Gora, Andrzej Dziembowski, Beata Burzynska
BACKGROUND: The thalassemia syndromes are classified according to the globin chain or chains whose production is affected. β-thalassemias are caused by point mutations or, more rarely, deletions or insertions of a few nucleotides in the β-globin gene or its immediate flanking sequences. These mutations interfere with the gene function either at the transcriptional, translational or posttranslational level. METHODS: Two cases of Polish patients with hereditary hemolytic anemia suspected of thalassemia were studied...
June 8, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28595573/a-novel-kcnq1-nonsense-variant-in-the-isoform-specific-first-exon-causes-both-jervell-and-lange-nielsen-syndrome-1-and-long-qt-syndrome-1-a-case-report
#4
Motoi Nishimura, Marehiko Ueda, Ryota Ebata, Emi Utsuno, Takuma Ishii, Kazuyuki Matsushita, Osamu Ohara, Naoki Shimojo, Yoshio Kobayashi, Fumio Nomura
BACKGROUND: According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT syndrome (LQTS; Romano-Ward syndrome [RWS]) 1 cases. Several missense variants are reported to cause RWS by a dominant-negative mechanism, and some KCNQ1 variants can cause both Jervell and Lange-Nielsen Syndrome (JLNS; in an autosomal recessive manner) and LQTS1 (in an autosomal dominant manner), while other KCNQ1 variants cause only JLNS...
June 8, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28587604/kcnj11-abcc8-and-tcf7l2-polymorphisms-and-the-response-to-sulfonylurea-treatment-in-patients-with-type-2-diabetes-a-bioinformatics-assessment
#5
Jingwen Song, Yunzhong Yang, Franck Mauvais-Jarvis, Yu-Ping Wang, Tianhua Niu
BACKGROUND: Type 2 diabetes (T2D) is a worldwide epidemic with considerable health and economic consequences. Sulfonylureas are widely used drugs for the treatment of patients with T2D. KCNJ11 and ABCC8 encode the Kir6.2 (pore-forming subunit) and SUR1 (regulatory subunit that binds to sulfonylurea) of pancreatic β cell KATP channel respectively with a critical role in insulin secretion and glucose homeostasis. TCF7L2 encodes a transcription factor expressed in pancreatic β cells that regulates insulin production and processing...
June 6, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28583108/a-novel-syne1-gene-mutation-in-a-chinese-family-of-emery-dreifuss-muscular-dystrophy-like
#6
Zuzhi Chen, Zhixia Ren, Wenli Mei, Qiankun Ma, Yingying Shi, Yuanxing Zhang, Shujian Li, Li Xiang, Jiewen Zhang
BACKGROUND: In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery-Dreifuss muscular dystrophy-like, which clinically manifests as muscle weakness, muscle atrophy, joint contracture, and without significant cardiac abnormalities. METHODS: Clinical examination and neuroimaging of the captured target region and high-throughput sequencing were performed in a family of four generations...
June 5, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28577551/clinical-diagnostic-exome-evaluation-for-an-infant-with-a-lethal-disorder-genetic-diagnosis-of-tarp-syndrome-and-expansion-of-the-phenotype-in-a-patient-with-a-newly-reported-rbm10-alteration
#7
Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang, Carolyn Jones
BACKGROUND: Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions. CASE PRESENTATION: We report a male infant born with multiple anomalies including bilateral dysplastic kidneys, cleft palate, bilateral talipes, and bilateral absence of thumbs and first toes. Prenatal testing including chromosome analysis and microarray did not identify a cause for the multiple congenital anomalies. Postnatal diagnostic exome studies (DES) were utilized to find a molecular diagnosis for the patient...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28576136/novel-apc-gene-mutations-associated-with-protein-alteration-in-diffuse-type-gastric-cancer
#8
Souvik Ghatak, Payel Chakraborty, Sandeep Roy Sarkar, Biswajit Chowdhury, Arup Bhaumik, Nachimuthu Senthil Kumar
BACKGROUND: The role of adenomatous polyposis coli (APC) gene in mitosis might be critical for regulation of genomic stability and chromosome segregation. APC gene mutations have been associated to have a role in colon cancer and since gastric and colon tumors share some common genetic lesions, it is relevant to investigate the role of APC tumor suppressor gene in gastric cancer. METHODS: We investigated for somatic mutations in the Exons 14 and 15 of APC gene from 40 diffuse type gastric cancersamples...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28576131/analysis-of-31-year-old-patient-with-syngap1-gene-defect-points-to-importance-of-variants-in-broader-splice-regions-and-reveals-developmental-trajectory-of-syngap1-associated-phenotype-case-report
#9
Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek
BACKGROUND: Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defects can also play a role. The definition of the phenotype range and course of rare genetic conditions requires long-term clinical follow-up of patients. CASE PRESENTATION: We report an adult female patient with severe intellectual disability, severe speech delay, epilepsy, autistic features, aggressiveness, sleep problems, broad-based clumsy gait and constipation...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28569194/severe-child-form-of-primary-hyperoxaluria-type-2-a-case-report-revealing-consequence-of-grhpr-deficiency-on-metabolism
#10
Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová, Daniel Böhmer
BACKGROUND: Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme activity, excessive amounts of oxalate and L-glycerate are excreted in the urine, and are a source for the formation of calcium oxalate stones that result in recurrent nephrolithiasis and less frequently nephrocalcinosis. CASE PRESENTATION: We report a case of a 10-month-old patient diagnosed with urolithiasis...
May 31, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28545452/a-simple-fast-and-inexpensive-method-for-mutation-scanning-of-cftr-gene
#11
Juan Emilio Figueredo Lago, Anny Armas Cayarga, Yaimé Josefina González González, Teresa Collazo Mesa
BACKGROUND: Mutation scanning methods in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene may not distinguish between a Cystic Fibrosis (CF) causing mutation and a benign variant. We have developed a simple and fast method for scanning 14 selected CF-causing mutations which have high frequency in Latin America. METHODS: In a group of 35 samples coming from CF patients previously characterized and using two allele-specific real-time multiplex PCRs targeting wild-type and mutant alleles respectively, we detect the presence of mutations by analyzing the Ct variation...
May 25, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28525974/pancreas-and-gallbladder-agenesis-in-a-newborn-with-semilobar-holoprosencephaly-a-case-report
#12
Robert Hilbrands, Kathelijn Keymolen, Alex Michotte, Miriam Marichal, Filip Cools, Anieta Goossens, Peter In't Veld, Jean De Schepper, Andrew Hattersley, Harry Heimberg
BACKGROUND: Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development. CASE PRESENTATION: We report a case of a Caucasian female with complete pancreatic agenesis occurring together with semilobar holoprosencephaly (HPE), a more common brain developmental disorder. Clinical findings were later confirmed by autopsy, which also identified agenesis of the gallbladder...
May 19, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28521825/association-of-4p14-and-6q27-variation-with-graves-disease-a-case-control-study-and-a-meta-analysis-of-available-evidence
#13
Fa-Mei Li, Lin Liu, Li-Nan Pang, Min Shen, Hong-Wen Lu, Xiao-Hong Zhang, Xun Chu, Zhen-Ju Song
BACKGROUND: The etiology of the Graves' disease (GD) is largely unknown. However, genetic factors are believed to play a major role. A recent genome-wide association study in a Han Chinese sample collection revealed two new Graves' disease (GD) risk loci within chromosome band 4p14 and 6q27. In this study, we aimed to investigate these associations with Weifang Han Chinese population of Shandong province and perform a meta-analysis of associations with GD. METHODS: A case-control study was conducted to investigate association of variation within 4p14 and 6q27 to GD susceptibility in Weifang Han Chinese population of Shandong province...
May 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28506293/case-report-of-unexpected-gastrointestinal-involvement-in-type-1-gaucher-disease-comparison-of-eliglustat-tartrate-treatment-and-enzyme-replacement-therapy
#14
Yoo-Mi Kim, Dong Hoon Shin, Su Bum Park, Chong Kun Cheon, Han-Wook Yoo
BACKGROUND: Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT). CASE PRESENTATION: Here, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infiltration of the gastroduodenal mucosa. Rare compound heterozygous mutations (p.Arg48Trp and p.Arg257Gln) of the GBA gene were found in both...
May 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28499373/a-case-control-study-of-selenoprotein-genes-polymorphisms-and-autoimmune-thyroid-diseases-in-a-chinese-population
#15
Ling Xiao, Jianghong Yuan, Qiuming Yao, Ni Yan, Ronghua Song, Wenjuan Jiang, Danfeng Li, Liangfeng Shi, Jin-An Zhang
BACKGROUND: Selenium is an essential trace and there is a high selenium concentration in the thyroid gland. Selenium deficiency may impair the thyroid function. The aim of this study was to investigate the association between three selenoprotein genes polymorphisms and autoimmune thyroid diseases. METHODS: We genotyped six single-nucleotide polymorphisms (SNPs), rs6865453 in selenoprotein P gene (SELENOP), rs713041 rs2074451 rs3746165 in glutathione peroxidase 4 gene (GPX4) and rs28665122 and rs7178239 in selenoprotein S gene (SELENOS) by MassARRAY system using the chip-based matrix-assisted laser desorption ionization time-of-flight mass spectrometry technology in 1060 patients with autoimmune thyroid diseases and 938 healthy controls...
May 12, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28499369/characterization-of-a-splice-site-mutation-in-the-tumor-suppressor-gene-flcn-associated-with-renal-cancer
#16
Malte P Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B Beck, Roman-Ulrich Müller
BACKGROUND: Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL and FLCN. Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé syndrome, a rare tumor syndrome which is characterized by the combination of renal cell carcinoma, pneumothorax and skin tumors. METHODS: Using Sanger sequencing we identify a heterozygous splice-site mutation in FLCN in lymphocyte DNA of a patient suffering from renal cell carcinoma...
May 12, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28482824/novel-missense-mutation-in-the-bzip-transcription-factor-maf-associated-with-congenital-cataract-developmental-delay-seizures-and-hearing-loss-aym%C3%A3-gripp-syndrome
#17
Shari Javadiyan, Jamie E Craig, Shiwani Sharma, Karen M Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau, Kathryn P Burdon
BACKGROUND: Cataract is a major cause of severe visual impairment in childhood. The purpose of this study was to determine the genetic cause of syndromic congenital cataract in an Australian mother and son. METHOD: Fifty-one genes associated with congenital cataract were sequenced in the proband using a custom Ampliseq library on the Ion Torrent Personal Genome Machine (PGM). Reads were aligned against the human genome (hg19) and variants were annotated. Variants were prioritised for validation by Sanger sequencing if they were novel, rare or previously reported to be associated with paediatric cataract and were predicted to be protein changing...
May 8, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28472934/novel-npc1-mutations-with-different-segregation-in-two-related-greek-patients-with-niemann-pick-type-c-disease-molecular-study-in-the-extended-pedigree-and-clinical-correlations
#18
Evangelia Bountouvi, Anna Papadopoulou, Marie T Vanier, Georgia Nyktari, Spyridon Kanellakis, Helen Michelakakis, Argyrios Dinopoulos
BACKGROUND: Niemann-Pick type C disease (NPC) is an autosomal recessive, neurovisceral, lysosomal storage disorder with protean and progressive clinical manifestations, resulting from mutations in either of the two genes, NPC1 (~95% of families) and NPC2. Contrary to other populations, published evidence regarding NPC disease in Greece is sparse. METHODS: The study population consisted of two Greek NPC patients and their extended pedigree. Patients' clinical, biochemical, molecular profiles and the possible correlations are presented...
May 4, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28468610/a-case-report-of-novel-mutation-in-prf1-gene-which-causes-familial-autosomal-recessive-hemophagocytic-lymphohistiocytosis
#19
Mohammad Reza Bordbar, Farzaneh Modarresi, Mohammad Ali Farazi Fard, Hassan Dastsooz, Nader Shakib Azad, Mohammad Ali Faghihi
BACKGROUND: Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessive hematological disorder is due to disease-causing mutations in several genes essential for NK and T-cell granule-mediated cytotoxic function. For an effective cytotoxic response from cytotoxic T lymphocyte or NK cell encountering an infected cell or tumor cell, different processes are required, including trafficking, docking, priming, membrane fusion, and entry of cytotoxic granules into the target cell leading to apoptosis...
May 3, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28468609/a-novel-trps1-mutation-in-a-moroccan-family-with-tricho-rhino-phalangeal-syndrome-type-iii-case-report
#20
W Smaili, S Chafai Elalaoui, S Meier, M Zerkaoui, A Sefiani, K Heinimann
BACKGROUND: Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsufficiency of the TRPS1 gene. Previous genotype-phenotype studies have correlated exon 6 missense mutations with TRPS type III, a severe form of type I with pronounced, facial characteristics, short stature and brachydactyly and differing from type II by the absence of exostoses and mental retardation...
May 3, 2017: BMC Medical Genetics
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