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https://www.readbyqxmd.com/read/28342926/causes-and-clinical-features-of-infertile-men-with-non-obstructive-azoospermia-and-histopathological-diagnosis-of-hypospermatogenesis
#1
Yu-Sheng Cheng, Chun-Wun Lu, Tsung-Yen Lin, Pei-Yu Lin, Yung-Ming Lin
OBJECTIVE: To analyze the causes and the clinical features of infertile men with non-obstructive azoospermia (NOA) and hypospermatogenesis (HS). METHODS: This retrospective cohort study included 100 patients with NOA and HS and eight patients with obstructive azoospermia and normal spermatogenesis. The severity of HS was subdivided into three groups (mild, moderate, and severe) based on spermatogenic score. Data of history, physical findings, serum hormone profiles, genetic studies and sperm retrieval rate (SRR) were collected...
March 22, 2017: Urology
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
#2
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/28334964/mutations-in-the-leukemia-inhibitory-factor-receptor-lifr-gene-and-lifr-deficiency-cause-urinary-tract-malformations
#3
Anne Kosfeld, Frank Brand, Anna-Carina Weiss, Martin Kreuzer, Michaela Goerk, Helge Martens, Stephanie Schubert, Anne-Kathrin Schäfer, Vera Riehmer, Imke Hennies, Jan Hinrich Bräsen, Lars Pape, Kerstin Amann, Lars Krogvold, Anna Bjerre, Christoph Daniel, Andreas Kispert, Dieter Haffner, Ruthild G Weber
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. As CAKUT is a genetically heterogeneous disorder and most cases are genetically unexplained, we aimed to identify new CAKUT causing genes. Using whole-exome sequencing and trio-based de novo analysis, we identified a novel heterozygous de novo frameshift variant in the leukemia inhibitory factor receptor (LIFR) gene causing instability of the mRNA in a patient presenting with bilateral CAKUT and requiring kidney transplantation at one year of age...
March 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28331220/identification-of-biallelic-extl3-mutations-in-a-novel-type-of-spondylo-epi-metaphyseal-dysplasia
#4
Long Guo, Nursel H Elcioglu, Shuji Mizumoto, Zheng Wang, Bilge Noyan, Hatice M Albayrak, Shuhei Yamada, Naomichi Matsumoto, Noriko Miyake, Gen Nishimura, Shiro Ikegawa
Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patients who presented with severe platyspondyly, kyphoscoliosis, pelvic distortion, constriction of the proximal femora and brachydactyly. Although these phenotypes overlap considerably with some known SEMDs, they had a novel causal gene, exostosin-like glycosyltransferase 3 (EXTL3), that encodes a glycosyltransferase involved in the synthesis of heparin and heparan sulfate...
March 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28315472/complex-postaxial-polydactyly-types-a-and-b-with-camptodactyly-hypoplastic-third-toe-zygodactyly-and-other-digit-anomalies-caused-by-a-novel-gli3-mutation
#5
Sara Mumtaz, Esra Yildiz, Karmoon Lal, Aslıhan Tolun, Sajid Malik
Polydactyly is a phenotypically and genetically highly heterogeneous limb malformation with preaxial and postaxial subtypes and subtypes A and B. Most polydactyly entities are associated with GLI3 mutation. We report on 10 affected individuals from a large Pakistani kindred initially evaluated as a possible new condition. The phenotype is postaxial polydactyly types A and B associated with zygodactyly, postaxial webbing of toes and additional features not previously reported for isolated polydactyly such as camptodactyly, hypoplasia of third toe, and wide space between hallux and second toe...
March 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28301459/blepharocheilodontic-syndrome-is-a-cdh1-pathway-related-disorder-due-to-mutations-in-cdh1-and-ctnnd1
#6
Jamal Ghoumid, Morgane Stichelbout, Anne-Sophie Jourdain, Frederic Frenois, Sophie Lejeune-Dumoulin, Marie-Pierre Alex-Cordier, Marine Lebrun, Pierre Guerreschi, Veronique Duquennoy-Martinot, Matthieu Vinchon, Joel Ferri, Matthieu Jung, Serge Vicaire, Clemence Vanlerberghe, Fabienne Escande, Florence Petit, Sylvie Manouvrier-Hanu
PURPOSE: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCD syndrome remains unknown. METHODS: We recruited 11 patients from 8 families and performed exome sequencing for 5 families with de novo BCD syndrome cases and targeted Sanger sequencing in the 3 remaining families. RESULTS: We identified five CDH1 heterozygous missense mutations and three CTNND1 heterozygous truncating mutations leading to loss-of-function or haploinsufficiency...
March 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28299356/an-exome-sequencing-study-of-moebius-syndrome-including-atypical-cases-reveals-an-individual-with-cfeom3a-and-a-tubb3-mutation
#7
Ronak M Patel, David Liu, Claudia Gonzaga-Jauregui, Shalini Jhangiani, James T Lu, V Reid Sutton, Susan D Fernbach, Mahshid Azamian, Lisa White, Jane C Edmond, Evelyn A Paysse, John W Belmont, Donna Muzny, James R Lupski, Richard A Gibbs, Richard Alan Lewis, Brendan H Lee, Seema R Lalani, Philippe M Campeau
Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal dominant transmission with incomplete penetrance and variable expressivity have been described. The genetic basis of this condition remains unknown...
March 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28293986/clear-cell-change-in-thyroid-carcinoma-a-clinicopathologic-and-molecular-study-with-identification-of-variable-genetic-anomalies
#8
Nicole A Cipriani, Shweta Agarwal, Dora Dias-Santagata, William C Faquin, Peter M Sadow
Clear cell carcinoma of the thyroid has been regarded as a variant of follicular (FTC) or papillary (PTC) thyroid carcinoma. 21 primary thyroid carcinomas with clear cell features, diagnosed in 20 patients (12 female, 8 male) were identified between 1992 and 2012 (0.5% of in-house thyroid carcinomas). H&E slides were reviewed. SNaPshot multi-gene mutational analysis and a translocation panel were successfully performed on 15 of these cases. 12 (57%) were FTC, 5 were conventional PTC, 2 were follicular variant (FV) of PTC, and 2 were poorly differentiated thyroid carcinoma (PDTC)...
March 15, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28287812/views-and-decisions-of-physicians-in-encountering-neonates-with-poor-prognosis
#9
Fatemeh Nayeri, Fariba Asghari, Ali Baser, Leila Janani, Mamak Shariat, Bita Eabrhim
BACKGROUND: With the development of neonatal intensive care units (NICUs), new issues have emerged for physicians working in this area, including the ethical aspects of providing invasive and advanced care to neonates with extremely poor prognosis. This research was undertaken with the aim of investing the factors affecting physicians' practice in management of newborns in such complicated circumstances. METHODS: A cross-sectional study was carried out over a period of 5 months (Jan 2012 to Jun 2012) in 9 different tertiary levels and academic NICUs affiliated to Tehran University of Medical Sciences in Tehran, Iran...
March 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28283832/genetic-and-phenotypic-dissection-of-1q43q44-microdeletion-syndrome-and-neurodevelopmental-phenotypes-associated-with-mutations-in-zbtb18-and-hnrnpu
#10
Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot-Bastaraud, Marie-Laure Moutard, Pankaj B Agrawal, Grace VanNoy, Joan M Stoler, David J Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier-Daire, Catherine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint-Martin, Edouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloes, Christine Orzechowski, Lydie Burglen, Bruno Leheup, Joelle Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael J Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie-Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S Møller, Deb Pal, Tord Jonson, Maria Soller, Nienke E Verbeek, Mieke M van Haelst, Carolien de Kovel, Bobby Koeleman, Glen Monroe, Gijs van Haaften, Tania Attié-Bitach, Lucile Boutaud, Delphine Héron, Cyril Mignot
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes...
April 2017: Human Genetics
https://www.readbyqxmd.com/read/28282781/fetal-brain-anomalies-detection-during-the-first-trimester-expanding-the-scope-of-antenatal-sonography
#11
Eldad Katorza, Itai Gat, Nir Duvdevani, Nir Meller, Noam Pardo, Eran Barzilay, Reuven Achiron
PURPOSE: The purpose of this study was to describe fetal brain anomalies identified during nuchal translucency (NT) examination and their clinical management. MATERIALS AND METHODS: In this retrospective study, we evaluated charts of pregnant women performed the first trimester scan (FTS) between 1.1.2011 and 31.12.14 in a tertiary referral center. Study population consisted of 952 patients scheduled for routine NT scan for aneuploidy screening between 11.0 and 13...
February 15, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28273706/-multiple-congenital-anomalies-hypotonia-seizures-syndrome-1-case-report-and-review-of-literature
#12
Y F Xu, N Li, G Q Li, X M Wang, Y F Zhou, L Yin, J Wang
Objective: To analyze and summarize the clinical and molecular characteristics of the patients with multiple congenital anomalies- hypotonia-seizures syndrome 1 (MCAHS 1). Method: Clinical data and test results were collected from a patient who was diagnosed with confirmed genetic basis of MCAHS 1 in Shanghai Children's Medical Center since December 2015. The patient and his parents were examined by the next generation sequencing (NGS) technology using peripheral blood genomic DNA, and the relevant mutations identified by NGS were verified with Sanger sequencing...
March 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28270404/pbx1-haploinsufficiency-leads-to-syndromic-congenital-anomalies-of-the-kidney-and-urinary-tract-cakut-in-humans
#13
Pauline Le Tanno, Julie Breton, Marie Bidart, Véronique Satre, Radu Harbuz, Pierre F Ray, Caroline Bosson, Klaus Dieterich, Sylvie Jaillard, Sylvie Odent, Gemma Poke, Rachel Beddow, Maria Christina Digilio, Antonio Novelli, Laura Bernardini, Maria Antonietta Pisanti, Luisa Mackenroth, Karl Hackmann, Ida Vogel, Rikke Christensen, Siv Fokstuen, Frédérique Béna, Florence Amblard, Francoise Devillard, Gaelle Vieville, Alexia Apostolou, Pierre-Simon Jouk, Fitsum Guebre-Egziabher, Hervé Sartelet, Charles Coutton
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) represent a significant healthcare burden since it is the primary cause of chronic kidney in children. CNVs represent a recurrent molecular cause of CAKUT but the culprit gene remains often elusive. Our study aimed to define the gene responsible for CAKUT in patients with an 1q23.3q24.1 microdeletion. METHODS: We describe eight patients presenting with CAKUT carrying an 1q23.3q24.1 microdeletion as identified by chromosomal microarray analysis (CMA)...
March 7, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28264986/a-truncating-mutation-in-cep55-is-the-likely-cause-of-march-a-novel-syndrome-affecting-neuronal-mitosis
#14
Patrick Frosk, Heleen H Arts, Julien Philippe, Carter S Gunn, Emma L Brown, Bernard Chodirker, Louise Simard, Jacek Majewski, Somayyeh Fahiminiya, Chad Russell, Yangfan P Liu, Robert Hegele, Nicholas Katsanis, Conrad Goerz, Marc R Del Bigio, Erica E Davis
BACKGROUND: Hydranencephaly is a congenital anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst. The goals of this work are to describe a novel autosomal-recessive syndrome that includes hydranencephaly (multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly (MARCH)); to identify its genetic cause(s) and to provide functional insight into pathomechanism. METHODS: We used homozygosity mapping and exome sequencing to identify recessive mutations in a single family with three affected fetuses...
March 6, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28259455/variation-in-extubation-failure-rates-after-neonatal-congenital-heart-surgery-across-pediatric-cardiac-critical-care-consortium-hospitals
#15
Brian D Benneyworth, Christopher W Mastropietro, Eric M Graham, Darren Klugman, John M Costello, Wenying Zhang, Michael Gaies
OBJECTIVE: In a multicenter cohort of neonates recovering from cardiac surgery, we sought to describe the epidemiology of extubation failure and its variability across centers, identify risk factors, and determine its impact on outcomes. METHODS: We analyzed prospectively collected clinical registry data on all neonates undergoing cardiac surgery in the Pediatric Cardiac Critical Care Consortium database from October 2013 to July 2015. Extubation failure was defined as reintubation less than 72 hours after the first planned extubation...
February 4, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28250421/ankrd11-variants-cause-variable-clinical-features-associated-with-kbg-syndrome-and-coffin-siris-like-syndrome
#16
Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto
KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin-Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms...
March 2, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28249010/tfap2-paralogs-regulate-melanocyte-differentiation-in-parallel-with-mitf
#17
Hannah E Seberg, Eric Van Otterloo, Stacie K Loftus, Huan Liu, Greg Bonde, Ramakrishna Sompallae, Derek E Gildea, Juan F Santana, J Robert Manak, William J Pavan, Trevor Williams, Robert A Cornell
Mutations in the gene encoding transcription factor TFAP2A result in pigmentation anomalies in model organisms and premature hair graying in humans. However, the pleiotropic functions of TFAP2A and its redundantly-acting paralogs have made the precise contribution of TFAP2-type activity to melanocyte differentiation unclear. Defining this contribution may help to explain why TFAP2A expression is reduced in advanced-stage melanoma compared to benign nevi. To identify genes with TFAP2A-dependent expression in melanocytes, we profile zebrafish tissue and mouse melanocytes deficient in Tfap2a, and find that expression of a small subset of genes underlying pigmentation phenotypes is TFAP2A-dependent, including Dct, Mc1r, Mlph, and Pmel...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28244147/a-genetic-female-mouse-model-with-congenital-genitourinary-anomalies-and-adult-stages-of-urinary-incontinence
#18
Pedram Akbari, Ali Fathollahi, Rong Mo, Michael Kavran, Nicole Episalla, Chi-Chung Hui, Walid A Farhat, Adonis K Hijaz
AIMS: To characterize the urinary incontinence observed in adult Gli2(+/)(-) ; Gli3(Δ699/+) female mice and identify the defects underlying the condition. METHODS: Gli2(+/)(-) and Gli3(Δ699/+) mice were crossed to generate: wild-type, mutant Gli2 (Gli2(+/-) ), mutant Gli3 (Gli3(Δ699/+) ), and double mutant (Gli2(+/-) ; Gli3(Δ699/+) ) female mice, verified via Polymerase Chain Reactions. Bladder functional studies including cystometrogram (CMG), leak point pressure (LPP), and voiding testing were performed on adult female mice...
February 28, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28236341/ednrb-mutations-cause-waardenburg-syndrome-type-ii-in-the-heterozygous-state
#19
Sarah Issa, Nadege Bondurand, Emmanuelle Faubert, Sylvain Poisson, Laure Lecerf, Patrick Nitschke, Naima Deggouj, Natalie Loundon, Laurence Jonard, Albert David, Yves Sznajer, Patricia Blanchet, Sandrine Marlin, Veronique Pingault
Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from the neural crest, with type I and type II being the most frequent. While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases. We performed exome sequencing in a WS2 index case and identified a heterozygous missense variation in EDNRB...
February 24, 2017: Human Mutation
https://www.readbyqxmd.com/read/28190455/who-s-who-detecting-and-resolving-sample-anomalies-in-human-dna-sequencing-studies-with-peddy
#20
Brent S Pedersen, Aaron R Quinlan
The potential for genetic discovery in human DNA sequencing studies is greatly diminished if DNA samples from a cohort are mislabeled, swapped, or contaminated or if they include unintended individuals. Unfortunately, the potential for such errors is significant since DNA samples are often manipulated by several protocols, labs, or scientists in the process of sequencing. We have developed a software package, peddy, to identify and facilitate the remediation of such errors via interactive visualizations and reports comparing the stated sex, relatedness, and ancestry to what is inferred from the individual genotypes derived from whole-genome (WGS) or whole-exome (WES) sequencing...
March 2, 2017: American Journal of Human Genetics
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