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founder mutation

Amichai Gutgold, David J Gross, Benjamin Glaser, Auryan Szalat
CONTEXT: Hypoglycemia is a rare event in healthy adults, and the differential diagnosis includes many diseases some of which are rare and easily missed. Description of the case: A 20 year-old male military paramedic was referred to our Emergency Department for the investigation of recurrent hypoglycemia episodes during the last months. Factitious hypoglycemia was excluded and organic hyperinsulinemic hypoglycemia was diagnosed by prolonged fast. Imaging studies (endoscopic ultrasound and triple-phase computed tomography) were normal...
October 18, 2016: Journal of Clinical Endocrinology and Metabolism
Jai Prakash Soni, Ratna D Puri, Kapil Jetha, G S L Bhavani, Monika Chaudhary, Sudha Kohli, I C Verma
Infantile systemic hyalinosis (OMIM 236490) is a progressive autosomal recessive disorder characterized by widespread deposition of hyaline material in many tissues leading to multiple subcutaneous skin nodules, gingival hypertrophy and joint contractures. The authors describe five children from four unrelated families, from the "mali (farmer)" community in Jodhpur, with the disorder. All of them had classical clinical features, and four died from severe infections between age of 7 mo to 3 y. Two affected children had the same, but novel mutation in the initiation codon, in homozygous form c...
October 18, 2016: Indian Journal of Pediatrics
Tracey P Leedom, Holly LaDuca, Rachel McFarland, Shuwei Li, Jill S Dolinsky, Elizabeth C Chao
CHEK2 mutations are associated with increased cancer risks, including breast; however, published risk estimates are limited to those conferred by CHEK2 founder mutations, presenting uncertainty in risk assessment for carriers of other CHEK2 mutations. This study aimed to assess phenotypes and molecular characteristics of CHEK2 mutation carriers (CHEK2 + s) from a multi-gene panel testing (MGPT) cohort, focusing on comparing phenotypes of founder and non-founder CHEK2 + s. Clinical histories and molecular results were reviewed from 45,879 patients who underwent MGPT including CHEK2 at a commercial laboratory...
September 2016: Cancer Genetics
Yuval B Simons, Guy Sella
Over the past decade, there has been both great interest and confusion about whether recent demographic events-notably the Out-of-Africa-bottleneck and recent population growth-have led to differences in mutation load among human populations. The confusion can be traced to the use of different summary statistics to measure load, which lead to apparently conflicting results. We argue, however, that when statistics more directly related to load are used, the results of different studies and data sets consistently reveal little or no difference in the load of non-synonymous mutations among human populations...
October 13, 2016: Current Opinion in Genetics & Development
Muddassar Iqbal, Niaz Muhammad, Sheikh A Ali, Svetlana Kostjukovits, Outi Mäkitie, Sadaf Naz
No abstract text is available yet for this article.
October 12, 2016: Clinical Dysmorphology
Ashley A Basiorka, Kathy L McGraw, Erika A Eksioglu, Xianghong Chen, Joseph Johnson, Ling Zhang, Qing Zhang, Brittany A Irvine, Thomas Cluzeau, David A Sallman, Eric Padron, Rami Komrokji, Lubomir Sokol, Rebecca C Coll, Avril A B Robertson, Matthew A Cooper, John L Cleveland, Luke A O'Neill, Sheng Wei, Alan F List
Despite genetic heterogeneity, myelodysplastic syndromes (MDS) share features of cytological dysplasia and ineffective hematopoiesis. We report that a hallmark of MDS is activation of the NLRP3 inflammasome, which drives clonal expansion and pyroptotic cell death. Independent of genotype, MDS hematopoietic stem/progenitor cells (HSPC) overexpress inflammasome proteins and manifest activated NLRP3 complexes that direct activation of caspase-1, generation of IL-1β and IL-18 and pyroptotic cell death. Mechanistically, pyroptosis is triggered by the alarmin S100A9 that is found in excess in MDS HSPC and bone marrow plasma...
October 13, 2016: Blood
Hatasu Kobayashi, Miroslav Brozman, Kateřina Kyselová, Daša Viszlayová, Takaaki Morimoto, Martin Roubec, David Školoudík, Andrea Petrovičová, Dominik Juskanič, Jozef Strauss, Marián Halaj, Peter Kurray, Marián Hranai, Kouji H Harada, Sumiko Inoue, Yukako Yoshida, Toshiyuki Habu, Roman Herzig, Shohab Youssefian, Akio Koizumi
RNF213/Mysterin has been identified as a susceptibility gene for moyamoya disease, a cerebrovascular disease characterized by occlusive lesions in the circle of Willis. The p.R4810K (rs112735431) variant is a founder polymorphism that is strongly associated with moyamoya disease in East Asia. Many non-p.R4810K rare variants of RNF213 have been identified in white moyamoya disease patients, although the ethnic mutations have not been investigated in this population. In the present study, we screened for RNF213 variants in 19 Slovakian and Czech moyamoya disease patients...
2016: PloS One
Chana Wiesman, Esther Rose, Allison Grant, Adam Zimilover, Susan Klugman, Nicole Schreiber-Agus
PURPOSE: The notion of offering population-based screening to the Ashkenazi Jewish (AJ) population for the BRCA1/2 founder mutations continues to gain support. A program called the BRCAcommunity initiative was designed to identify the benefits and barriers associated with implementing this screening in a clinical setting. METHODS: Interested AJ individuals were stratified into high-risk (HR) and low-risk (LR) groups based on self-reported cancer histories. Those at HR were offered traditional genetic counseling/testing; those at LR were offered group genetic counseling and subsidized AJ BRCA founder mutation testing...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Flavia Palombo, Nadia Al-Wardy, Guido Alberto Gnecchi Ruscone, Manuela Oppo, Mohammed Nasser Al Kindi, Andrea Angius, Khalsa Al Lamki, Giorgia Girotto, Tania Giangregorio, Matteo Benelli, Alberto Magi, Marco Seri, Paolo Gasparini, Francesco Cucca, Marco Sazzini, Mazin Al Khabori, Tommaso Pippucci, Giovanni Romeo
The increased risk for autosomal recessive disorders is one of the most well-known medical implications of consanguinity. In the Sultanate of Oman, a country characterized by one of the highest rates of consanguineous marriages worldwide, prevalence of genetic hearing loss (GHL) is estimated to be 6/10 000. Families of GHL patients have higher consanguinity rates than the general Omani population, indicating a major role for recessive forms. Mutations in GJB2, the most commonly mutated GHL gene, have been sporadically described...
October 13, 2016: Journal of Human Genetics
Maria Rossing, Anders Albrechtsen, Anne-Bine Skytte, Uffe B Jensen, Lilian B Ousager, Anne-Marie Gerdes, Finn C Nielsen, Thomas vO Hansen
Pathogenic germline mutations in the folliculin (FLCN) tumor suppressor gene predispose to Birt-Hogg-Dubé (BHD) syndrome, a rare disease characterized by the development of cutaneous hamartomas (fibrofolliculomas), multiple lung cysts, spontaneous pneumothoraces and renal cell cancer. In this study, we report the identification of 13 variants and three polymorphisms in the FLCN gene in 143 Danish patients or families with suspected BHD syndrome. Functional mini-gene splicing analysis revealed that two intronic variants (c...
October 13, 2016: Journal of Human Genetics
Arnold L Demain, Evan Martens
We are pleased to dedicate this paper to Dr Julian E Davies. Julian is a giant among microbial biochemists. He began his professional career as an organic chemistry PhD student at Nottingham University, moved on to a postdoctoral fellowship at Columbia University, then became a lecturer at the University of Manchester, followed by a fellowship in microbial biochemistry at Harvard Medical School. In 1965, he studied genetics at the Pasteur Institute, and 2 years later joined the University of Wisconsin in the Department of Biochemistry...
October 12, 2016: Journal of Antibiotics
František Liška, Renata Peterková, Miroslav Peterka, Vladimír Landa, Václav Zídek, Petr Mlejnek, Jan Šilhavý, Miroslava Šimáková, Vladimír Křen, Colby G Starker, Daniel F Voytas, Zsuzsanna Izsvák, Michal Pravenec
Recently, it has been found that spontaneous mutation Lx (polydactyly-luxate syndrome) in the rat is determined by deletion of a conserved intronic sequence of the Plzf (Promyelocytic leukemia zinc finger protein) gene. In addition, Plzf is a prominent candidate gene for quantitative trait loci (QTLs) associated with cardiac hypertrophy and fibrosis in the spontaneously hypertensive rat (SHR). In the current study, we tested the effects of Plzf gene targeting in the SHR using TALENs (transcription activator-like effector nucleases)...
2016: PloS One
E Dagan, R Gershoni-Baruch, A Kurolap, G Fried
This study uncovers disease characteristics by long-term follow-up in Ashkenazi early onset breast cancer (EOBC) patients, carriers of founder BRCA1/2 mutations compared to non-carriers of such mutations. An archives-retrospective design was conducted to study the pathological and clinical characteristics of 149 Ashkenazi Jewish EOBC patients (<42 years) who were referred consecutively to the oncogenetic clinic by the oncology centre at Rambam HealthCare Campus, as from 1995, with a mean follow-up of 13...
October 10, 2016: European Journal of Cancer Care
Chunxiang Fan, Ninghui Mao, Frank Lehmann-Horn, Jan Bürmann, Karin Jurkat-Rott
Hyperkalemic periodic paralysis (HyperPP) is a dominantly inherited muscle disease caused by mutations in SCN4A gene encoding skeletal muscle voltage gated Nav 1.4 channels. We identified a novel Nav 1.4 mutation I692M in 14 families out of the 104 genetically identified HyperPP families in the Neuromuscular Centre Ulm and is therefore as frequent as I693T (13 families out of 14 HyperPP families) in Germany. Surprisingly, in 13 families, a known polymorphism S906T was also present. It was on the affected allele in at least 10 families compatible with a possible founder effect in central Europe...
October 6, 2016: Clinical Genetics
Julie Turnbull, Erica Tiberia, Pasquale Striano, Pierre Genton, Stirling Carpenter, Cameron A Ackerley, Berge A Minassian
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two. Founder effects and recurrent mutations are common, and mostly isolated to specific ethnic groups and/or geographical locations. Pathologically, LD is characterized by distinctive polyglucosans, which are formations of abnormal glycogen. Polyglucosans, or Lafora bodies (LB) are typically found in the brain, periportal hepatocytes of the liver, skeletal and cardiac myocytes, and in the eccrine duct and apocrine myoepithelial cells of sweat glands...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Isabelle Bourdeau, Solange Grunenwald, Nelly Burnichon, Emmanuel Khalifa, Nadine Dumas, Marie-Claire Binet, Serge Nolet, Anne-Paule Gimenez-Roqueplo
BACKGROUND: More than 40% of patients with paragangliomas (PGL) harbor a germline mutation of the known PGL susceptibility genes mainly in the SDHB or SDHD genes. OBJECTIVE: To characterize the genetic background of the French Canadian (FC) patients with PGL and provide new clinical and paraclinical insights on SDHC-related PGL. METHODS: Genetic testing has been offered to FC patients affected with PGL followed at the adrenal genetics clinic at Centre Hospitalier de l'Université de Montréal (CHUM)...
October 4, 2016: Journal of Clinical Endocrinology and Metabolism
Charles E Vejnar, Miguel A Moreno-Mateos, Daniel Cifuentes, Ariel A Bazzini, Antonio J Giraldez
This protocol describes how to generate and genotype mutants using an optimized CRISPR-Cas9 genome-editing system in zebrafish (CRISPRscan). Because single guide RNAs (sgRNAs) have variable efficiency when targeting specific loci, our protocol starts by explaining how to use the web tool CRISPRscan to design highly efficient sgRNAs. The CRISPRscan algorithm is based on the results of an integrated analysis of more than 1000 sgRNAs in zebrafish, which uncovered highly predictive factors that influence Cas9 activity...
October 3, 2016: Cold Spring Harbor Protocols
Roser Pons, Kyriaki Kekou, Roubina Antonellou, Maria Svingou, Emmanouel Kanavakis, Leonidas Stefanis
No abstract text is available yet for this article.
September 26, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Jia Zhang, Guolong Zhang, Cheng Ni, Ruhong Cheng, Jianying Liang, Ming Li, Zhirong Yao
Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which is caused by mutations in the SERPINB7 gene. NPPK has only been reported in Japanese and Chinese populations. The present study was conducted on 12 unrelated Chinese patients who were clinically predicted to suffer from NPPK. Mutation screening was performed by direct sequencing of the entire coding regions of SERPINB7, SLURP1, AQP5, CSTA, KRT1 and KRT9 genes. Direct sequencing of SERPINB7 revealed five homozygous founder mutations (c...
September 21, 2016: Molecular Medicine Reports
V Munford, L P Castro, R Souto, L K Lerner, J Brandstetter Vilar, C Quayle, H Asif, A P Schuch, T A de Souza, S Ienne, F I A Alves, L M S Moura, P A V Galante, A A Camargo, R Liboredo, S D J Pena, A Sarasin, S C Chaibub, C F M Menck
BACKGROUND: Xeroderma pigmentosum (XP) is a rare human syndrome associated with hypersensitivity to sunlight and a high frequency of skin tumors at an early age. We identified a community in the state of Goias (central Brazil), a very sunny and tropical region, with a high incidence of XP (17 patients among approximately 1,000 inhabitants). OBJECTIVES: To identify the gene mutations in the affected community and map the distribution of the affected alleles, correlating the mutations with clinical phenotypes...
September 24, 2016: British Journal of Dermatology
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