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https://www.readbyqxmd.com/read/28339459/functional-classification-of-dna-variants-by-hybrid-minigenes-identification-of-30-spliceogenic-variants-of-brca2-exons-17-and-18
#1
Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco
Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for genomic medicine. Likewise, an increasing amount of evidence indicates that genetic variants can have deleterious effects on pre-mRNA splicing. Our goal was to investigate the impact on splicing of a set of reported variants of BRCA2 exons 17 and 18 to assess their role in hereditary breast cancer and to identify critical regulatory elements that may constitute hotspots for spliceogenic variants...
March 24, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28335084/identification-of-new-bmp6-pro-peptide-mutations-in-patients-with-iron-overload
#2
Chiara Piubelli, Annalisa Castagna, Giacomo Marchi, Monica Rizzi, Fabiana Busti, Sadaf Badar, Monia Marchetti, Marco De Gobbi, Antonella Roetto, Luciano Xumerle, Eda Suku, Alejandro Giorgetti, Massimo Delledonne, Oliviero Olivieri, Domenico Girelli
Hereditary Hemochromatosis (HH) is a genetically heterogeneous disorder caused by mutations in at least 5 different genes (HFE, HJV, TFR2, SLC40A1, HAMP) involved in the production or activity of the liver hormone hepcidin, a key regulator of systemic iron homeostasis. Nevertheless, patients with an HH-like phenotype that remains completely/partially unexplained despite extensive sequencing of known genes are not infrequently seen at referral centers, suggesting a role of still unknown genetic factors. A compelling candidate is Bone Morphogenetic Protein 6 (BMP6), which acts as a major activator of the BMP-SMAD signaling pathway, ultimately leading to the upregulation of hepcidin gene transcription...
March 23, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28334959/clinical-utility-of-a-self-administered-questionnaire-for-assessment-of-hereditary-gynecologic-cancer
#3
Kenta Masuda, Akira Hirasawa, Haruko Irie-Kunitomi, Tomoko Akahane, Arisa Ueki, Yusuke Kobayashi, Wataru Yamagami, Hiroyuki Nomura, Fumio Kataoka, Eiichiro Tominaga, Kouji Banno, Nobuyuki Susumu, Daisuke Aoki
No abstract text is available yet for this article.
March 13, 2017: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28334952/dnmt1-mutations-found-in-hsanie-patients-affect-interaction-with-uhrf1-and-neuronal-differentiation
#4
Martha Smets, Stephanie Link, Patricia Wolf, Katrin Schneider, Veronica Solis, Joel Ryan, Daniela Meilinger, Weihua Qin, Heinrich Leonhardt
DNMT1 is recruited to substrate sites by PCNA and UHRF1 to maintain DNA methylation after replication. The cell cycle dependent recruitment of DNMT1 is mediated by the PCNA-binding domain (PBD) and the targeting sequence (TS) within the N-terminal regulatory domain. The TS domain was found to be mutated in patients suffering from hereditary sensory and autonomic neuropathies with dementia and hearing loss (HSANIE) and autosomal dominant cerebellar ataxia deafness and narcolepsy (ADCA-DN) and is associated with global hypomethylation and site specific hypermethylation...
March 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334914/clinical-utility-of-a-self-administered-questionnaire-for-assessment-of-hereditary-gynecologic-cancer
#5
Kenta Masuda, Akira Hirasawa, Haruko Irie-Kunitomi, Tomoko Akahane, Arisa Ueki, Yusuke Kobayashi, Wataru Yamagami, Hiroyuki Nomura, Fumio Kataoka, Eiichiro Tominaga, Kouji Banno, Nobuyuki Susumu, Daisuke Aoki
Background: A patient's medical history and familial cancer history are important information for assessing the risk of hereditary cancer. We have generated a self-administered questionnaire for patients with gynecologic cancer. This pilot study analyzed the usefulness of this questionnaire and the rates of patients that meet the Society of Gynecologic Oncology criteria in ovarian cancer and endometrial cancer patients. Method: Ovarian or endometrial cancer patients were recruited for this study...
December 23, 2017: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28333842/review-article-sexuality-and-risk-reducing-salpingo-oophorectomy
#6
Paige E Tucker, Paul A Cohen
INTRODUCTION: Women with familial cancer syndromes such as hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2) and Lynch syndrome are at a significantly increased risk of developing ovarian cancer and are advised to undergo prophylactic removal of their ovaries and fallopian tubes at age 35 to 40 years, after childbearing is complete. METHODS: A comprehensive literature search of studies on risk-reducing salpingo-oophorectomy (RRSO), sexuality, and associated issues was conducted in MEDLINE databases...
March 23, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28332883/precision-medicine-an-update-on-genotype-biochemical-phenotype-relationships-in-pheochromocytoma-paraganglioma-patients
#7
Garima Gupta, Karel Pacak
Pheochromocytomas and paragangliomas are rare neuroendocrine tumors known to produce and secrete high levels of circulating catecholamines and their metabolites. The biochemical characteristics of these tumors can be used to divide them into three major phenotypes. The adrenergic phenotype comprises of tumors with predominant elevations in epinephrine and metanephrine levels whereas the noradrenergic phenotype is composed of tumors with predominant elevations in norepinephrine and normetanephrine levels. The dopaminergic phenotype is a third rare group composed of tumors mainly secreting dopamine and 3-methoxytyramine...
March 23, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28332297/hereditary-spastic-paraplegia-caused-by-compound-heterozygous-mutations-outside-the-motor-domain-of-the-kif1a-gene
#8
M Krenn, G Zulehner, C Hotzy, J Rath, E Stogmann, M Wagner, T B Haack, T M Strom, A Zimprich, F Zimprich
BACKGROUND AND PURPOSE: Hereditary spastic paraplegia is a clinically and genetically heterogeneous group of rare, inherited disorders causing an upper motor neuron syndrome with (complex) or without (pure) additional neurological symptoms. Mutations in the KIF1A gene have already been associated with recessive and dominant forms of hereditary spastic paraplegia (SPG30) in a few cases. METHODS: All family members included in the study were examined neurologically...
March 22, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28331559/tumor-suppressor-genes-in-familial-adenomatous-polyposis
#9
REVIEW
Nahal Eshghifar, Naser Farrokhi, Tahereh Naji, Mohammadreza Zali
Colorectal cancer (CRC) is mostly due to a series of genetic alterations that are being greatly under the influence of the environmental factors. These changes, mutational or epigenetic modifications at transcriptional forefront and/or post-transcriptional effects via miRNAs, include inactivation and the conversion of proto-oncogene to oncogenes, and/or inactivation of tumor suppressor genes (TSG). Here, a thorough review was carried out on the role of TSGs with the focus on the APC as the master regulator, mutated genes and mal-/dysfunctional pathways that lead to one type of hereditary form of the CRC; namely familial adenomatous polyposis (FAP)...
2017: Gastroenterology and Hepatology From Bed to Bench
https://www.readbyqxmd.com/read/28331555/erratum-to-monoallelic-germline-methylation-and-sequence-variant-in-the-promoter-of-the-rb1-gene-a-possible-constitutive-epimutation-in-hereditary-retinoblastoma
#10
Guadalupe Quiñonez-Silva, Mercedes Dávalos-Salas, Félix Recillas-Targa, Patricia Ostrosky-Wegman, Diego Arenas Aranda, Luis Benítez-Bribiesca
[This corrects the article DOI: 10.1186/s13148-015-0167-0.].
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28330551/-thalassaemia-and-pregnancy
#11
Viktoriya Luk'yanenko, Marjoes Droogh, Ulrik Malthe Overgaard
Global migration has resulted in a larger geographical spread of people with risk of hereditary anaemias. This leads to an increased incidence of pregnant women with rare diseases, including thalassaemia also in Scandinavia. Thalassaemia can cause severe anaemia and other complications during pregnancy, like risk of miscarriage, intrauterine fetal death, abruptio, intrauterine growth retardation, hypertension, gestational diabetes and pre-eclampsia. In this article, we focus on the aetiology, assessment, antenatal care and treatment of pregnant women with thalassaemia...
March 20, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28330375/complex-p-t88n-w130r-mutation-in-the-lysozyme-gene-leading-to-hereditary-lysozyme-amyloidosis-with-biopsy-proven-cardiac-involvement
#12
Brett W Sperry, Angela Dispenzieri, Asad Ikram, Martha Grogan, Jason D Theis, Nelson Leung, W Edward Highsmith, Joseph J Maleszewski, Mazen Hanna
No abstract text is available yet for this article.
March 22, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28329545/darier-white-disease
#13
Mitalee P Christman, Evan Reider, Randie H Kim, Nooshin Brinster, Elisa Femia, Miriam Keltz Pomeranz
We present a 58-year-old woman with bipolardisorder and with a longstanding history of yellowbrown,hyperkeratotic papules in a seborrheicdistribution and nail changes. Her father andpaternal grandmother had similar eruptions and alsohad psychiatric disease. Histopathologic examinationshowed acantholysis and dyskeratosis, which wasconsistent with Darier-White disease. Darier-Whitedisease is a rare, hereditary disorder that is inheritedin an autosomal dominant manner and that usuallypresents in adolescence or early adulthood dueto mutations in the SERCA2 calcium pump...
December 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329534/acquired-aquagenic-papulotranslucent-acrokeratoderma
#14
Sarah E Yagerman, Marie Lager, Nicholas A Soter
Aquagenic papulotranslucent acrokeratoderma isa rare condition with the development of white-totransluscentpapules and plaques after exposureto water. While the first report was described asan autosomal dominant hereditary condition,there have since been acquired cases reported inassociation with cystic fibrosis, with prior exposureto a drug, or as an idiopathic condition. We presenta 24-year-old man with acquired aquagenicpapulotranslucent acrokeratoderma that has beenpresent since infancy, without a family history,without prior drug exposure, and without anypersonal or family history of cystic fibrosis...
December 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329522/multiple-miliary-osteoma-cutis-of-the-face-associated-with-albright-hereditary-osteodystrophy-in-the-setting-of-acne-vulgaris-a-case-report
#15
Joseph V Caravaglio, Rema Gupta, David Weinstein
Osteoma cutis is a condition characterized by theformation of bone within the skin. Such aberrantossification of the skin and subcutaneous tissue isconsidered primary when it arises in the absence ofunderlying tissue damage or a preceding cutaneouslesion. Conversely, secondary osteoma cutis occurswhen skin ossification is the result of a pre-existingskin lesion, trauma, or inflammatory process [1,2].Although rare, primary osteoma cutis has beenassociated with a number of different geneticdisorders. Albright hereditary osteodystrophy (AHO),a condition first described in 1942 by Fuller Albright,is an autosomal dominant metabolic disorder causedby a mutation in the GNAS1 gene [3]...
March 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329355/international-recommendations-for-electrocardiographic-interpretation-in-athletes
#16
Sanjay Sharma, Jonathan A Drezner, Aaron Baggish, Michael Papadakis, Mathew G Wilson, Jordan M Prutkin, Andre La Gerche, Michael J Ackerman, Mats Borjesson, Jack C Salerno, Irfan M Asif, David S Owens, Eugene H Chung, Michael S Emery, Victor F Froelicher, Hein Heidbuchel, Carmen Adamuz, Chad A Asplund, Gordon Cohen, Kimberly G Harmon, Joseph C Marek, Silvana Molossi, Josef Niebauer, Hank F Pelto, Marco V Perez, Nathan R Riding, Tess Saarel, Christian M Schmied, David M Shipon, Ricardo Stein, Victoria L Vetter, Antonio Pelliccia, Domenico Corrado
Sudden cardiac death (SCD) is the leading cause of mortality in athletes during sport. A variety of mostly hereditary, structural, or electrical cardiac disorders are associated with SCD in young athletes, the majority of which can be identified or suggested by abnormalities on a resting 12-lead electrocardiogram (ECG). Whether used for diagnostic or screening purposes, physicians responsible for the cardiovascular care of athletes should be knowledgeable and competent in ECG interpretation in athletes. However, in most countries a shortage of physician expertise limits wider application of the ECG in the care of the athlete...
February 20, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28328347/prevention-of-hereditary-angioedema-attacks-with-a-subcutaneous-c1-inhibitor
#17
Hilary Longhurst, Marco Cicardi, Timothy Craig, Konrad Bork, Clive Grattan, James Baker, Huamin H Li, Avner Reshef, James Bonner, Jonathan A Bernstein, John Anderson, William R Lumry, Henriette Farkas, Constance H Katelaris, Gordon L Sussman, Joshua Jacobs, Marc Riedl, Michael E Manning, Jacques Hebert, Paul K Keith, Shmuel Kivity, Sergio Neri, Donald S Levy, Maria L Baeza, Robert Nathan, Lawrence B Schwartz, Teresa Caballero, William Yang, Ioana Crisan, María D Hernandez, Iftikhar Hussain, Michael Tarzi, Bruce Ritchie, Pavlina Králíčková, Mar Guilarte, Syed M Rehman, Aleena Banerji, Richard G Gower, Debra Bensen-Kennedy, Jonathan Edelman, Henrike Feuersenger, John-Philip Lawo, Thomas Machnig, Dipti Pawaskar, Ingo Pragst, Bruce L Zuraw
Background Hereditary angioedema is a disabling, potentially fatal condition caused by deficiency (type I) or dysfunction (type II) of the C1 inhibitor protein. In a phase 2 trial, the use of CSL830, a nanofiltered C1 inhibitor preparation that is suitable for subcutaneous injection, resulted in functional levels of C1 inhibitor activity that would be expected to provide effective prophylaxis of attacks. Methods We conducted an international, prospective, multicenter, randomized, double-blind, placebo-controlled, dose-ranging, phase 3 trial to evaluate the efficacy and safety of self-administered subcutaneous CSL830 in patients with type I or type II hereditary angioedema who had had four or more attacks in a consecutive 2-month period within 3 months before screening...
March 23, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28328124/exome-sequencing-identifies-novel-ntrk1-mutations-in-patients-with-hsan-iv-phenotype
#18
Ruqaiah Altassan, Haya Al Saud, Tariq Ahmad Masoodi, Haya Al Dosssari, Ola Khalifa, Hamad Al-Zaidan, Nadia Sakati, Zuhair Rhabeeni, Zuhair Al-Hassnan, Yousef Binamer, Nadia Alhashemi, William Wade, Zayed Al-Zayed, Moeen Al-Sayed, Mohamed A Al-Muhaizea, Brian Meyer, Mohammad Al-Owain, Salma M Wakil
Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavior, and intellectual disability. HSAN-IV is caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene, NTRK1, encoding the high-affinity receptor of nerve growth factor (NGF) which maps to chromosome 1q21-q22. Patients with HSAN-IV lack all NGF-dependent neurons, the primary afferents and sympathetic postganglionic neurons leading to lack of pain sensation and the presence of anhidrosis, respectively...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327574/from-older-to-younger-intergenerational-promotion-of-health-behaviours-in-portuguese-families-affected-by-familial-amyloid-polyneuropathy
#19
Carla Roma Oliveira, Alvaro Mendes, Liliana Sousa
The role of older generations in families with hereditary diseases has been recognised and associated to their function as guardians of the family's medical history. However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met. This qualitative exploratory study examines the roles that older generations play towards younger generations, in terms of health promotion and risk management, in families with FAP...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28327268/combined-surgical-removal-of-a-supernumerary-tooth-and-orthodontic-traction-of-an-impacted-maxillary-central-incisor
#20
Leopoldo Cosme-Silva, Lidiane Lucas Costa E Silva, Marina Azevedo Junqueira, Nayara Nery de Oliveira Dias, Ana Beatriz da Silveira Moretti, Vivien Thiemy Sakai
Impaction of permanent maxillary central incisors is a rare condition that can affect esthetics and oral function. The etiology of impaction is multifactorial and may be related to embryologic reasons, hereditary factors, mechanical obstacles, and pathologic elements, such as the presence of supernumerary teeth. The purpose of this report is to discuss the case of a 10-year-old patient who presented an impacted permanent maxillary right central incisor due to a supernumerary tooth. Surgical removal of the supernumerary tooth and orthodontic traction of the impacted central incisor by the closed eruption technique were performed...
September 15, 2016: Journal of Dentistry for Children
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