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identified genetic anomalys

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https://www.readbyqxmd.com/read/29776870/historical-bibliometric-analysis-of-the-top-cited-articles-on-vesicoureteral-reflux-1950-2016-and-incorporation-of-a-novel-impact-index
#1
N Fernandez, A Puerto, A Azuero, F O'Kelly, J Hannick, M Rickard, A Kirsch, A Caldamone, M Koyle
INTRODUCTION AND OBJECTIVES: Vesicoureteral reflux (VUR) has been one of the defining conditions unique to pediatric urology since its inception. The clinical implications of this disease process depend on intrinsic patient factors such as age, genetics, epigenetics, voiding habits, anatomic anomalies, and extrinsic factors such as the pathogenicity of infectious agents. Knowledge about its natural history, the implications of conservative and surgical management, and their associated outcomes have evolved dramatically over time...
April 24, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29774379/-agenesis-of-the-corpus-callosum
#2
REVIEW
J M Lieb, F J Ahlhelm
CLINICAL ISSUE: Agenesis of the corpus callosum is reported to have an incidence of about 1:4000 live births. In 30-45% of cases, genetic etiologies can be identified, e. g., 10% chromosomal anomalies and 20-35% genetic syndromes. Environmental factors like fetal alcohol syndrome are also known to be prone to callosal agenesis. Callosal agenesis can be complete or partial and can be isolated or associated with other central nervous system (CNS) anomalies (e. g., cortical developmental disorders, callosal lipoma, intracranial cysts) or extra-CNS anomalies (e...
May 17, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29769050/why-do-patients-decline-amniocentesis-analysis-of-factors-influencing-the-decision-to-refuse-invasive-prenatal-testing
#3
Pawel Sadlecki, Marek Grabiec, Pawel Walentowicz, Malgorzata Walentowicz-Sadlecka
BACKGROUND: In recent years, determination of personalized risk for fetal chromosomal anomalies emerged as an important component of prenatal genetic counseling. Women in whom fetal risk for chromosomal aberrations is elevated are offered further testing. The aim of this study was to identify factors that may influence the decision to refuse invasive prenatal testing aimed at determination of fetal karyotype in a group of patients at increased risk of trisomy 21. METHODS: The analysis included 177 patients with singleton pregnancy, whose personalized risk score for trisomy 21 calculated on the basis of the combined test exceeded 1:300...
May 16, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29764441/case-report-identification-of-an-hnf1b-p-arg527gln-mutation-in-a-maltese-patient-with-atypical-early-onset-diabetes-and-diabetic-nephropathy
#4
Nikolai Paul Pace, Johann Craus, Alex Felice, Josanne Vassallo
BACKGROUND: The diagnosis of atypical non-autoimmune forms of diabetes mellitus, such as maturity onset diabetes of the young (MODY) presents several challenges, in view of the extensive clinical and genetic heterogeneity of the disease. In this report we describe a case of atypical non autoimmune diabetes associated with a damaging HNF1β mutation. This is distinguished by a number of uncharacteristic clinical features, including early-onset obesity, the absence of renal cysts and diabetic nephropathy...
May 15, 2018: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/29760939/novel-tfap2a-mutation-in-a-japanese-family-with-branchio-oculo-facial-syndrome
#5
Taisuke Sato, Osamu Samura, Noriko Kato, Kosuke Taniguchi, Ken Takahashi, Yuki Ito, Hiroaki Aoki, Masahisa Kobayashi, Ohsuke Migita, Aikou Okamoto, Kenichiro Hata
Branchio-oculo-facial syndrome (BOFS) is a rare autosomal dominant disorder characterized by craniofacial, ocular, and ectodermal anomalies. BOFS is caused by mutation of the transcription factor AP2-alpha gene ( TFAP2A ). We performed detailed genetic analysis of a Japanese family with clinically suspected BOFS and identified a novel missense mutation resulting in a predicted amino-acid substitution in the highly conserved basic DNA-binding domain of TFAP2A (NM_003220.2:c.699A>C).
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29753921/de-novo-loss-of-function-variants-of-ash1l-are-associated-with-an-emergent-neurodevelopmental-disorder
#6
Wei Shen, Patti Krautscheid, Audrey M Rutz, Pinar Bayrak-Toydemir, Sarah L Dugan
De novo variants of ASH1L, which encodes a histone methyltransferase, have been reported in a few patients with intellectual disability and autistic features. Here, we identified a novel de novo frame-shift variant, c.2422_2423delAAinsT which predicts p.(Lys808TyrfsTer40), in ASH1L in a patient with multiple congenital anomalies (MCA), fine motor developmental delay, learning difficulties, attention deficit hyperactivity disorder, sleep apnea, and scoliosis. This frame-shift variant is expected to result in loss-of-function...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29750247/tp53-dependent-and-independent-signaling-underlies-the-pathogenesis-and-possible-prevention-of-acrofacial-dysostosis-cincinnati-type
#7
Kristin E N Watt, Cynthia L Neben, Shawn Hall, Amy E Merrill, Paul A Trainor
Ribosome biogenesis is a global process required for growth and proliferation in all cells, but disruptions in this process surprisingly lead to tissue-specific phenotypic disorders termed ribosomopathies. Pathogenic variants in the RNA Polymerase (Pol) I subunit POLR1A cause Acrofacial Dysostosis - Cincinnati type, which is characterized by craniofacial and limb anomalies. In a zebrafish model of Acrofacial Dysostosis - Cincinnati type, we demonstrate that polr1a-/- mutants exhibit deficient 47S rRNA transcription, reduced monosomes and polysomes and, consequently, defects in protein translation...
May 10, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29728705/pathogenic-variants-in-e3-ubiquitin-ligase-rlim-rnf12-lead-to-a-syndromic-x-linked-intellectual-disability-and-behavior-disorder
#8
Suzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, Ute Grasshoff, Bas de Hoon, Michael Field, Sylvie Manouvrier-Hanu, Scott E Hickey, Molka Kammoun, Karen W Gripp, Claudia Bauer, Christopher Schroeder, Annick Toutain, Theresa Mihalic Mosher, Benjamin J Kelly, Peter White, Andreas Dufke, Eveline Rentmeester, Sungjin Moon, Daniel C Koboldt, Kees E P van Roozendaal, Hao Hu, Stefan A Haas, Hans-Hilger Ropers, Lucinda Murray, Eric Haan, Marie Shaw, Renee Carroll, Kathryn Friend, Jan Liebelt, Lynne Hobson, Marjan De Rademaeker, Joep Geraedts, Jean-Pierre Fryns, Joris Vermeesch, Martine Raynaud, Olaf Riess, Joost Gribnau, Nicholas Katsanis, Koen Devriendt, Peter Bauer, Jozef Gecz, Christelle Golzio, Cristina Gontan, Vera M Kalscheuer
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We report the genetic and clinical findings of 84 individuals from nine unrelated families, eight of whom who have pathogenic variants in RLIM (RING finger LIM domain-interacting protein). A total of 40 affected males have X-linked intellectual disability (XLID) and variable behavioral anomalies with or without congenital malformations...
May 4, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29712489/sensitivity-of-prenatal-ultrasound-for-detection-of-trisomy-18
#9
David A Becker, Ying Tang, Adam P Jacobs, Joseph R Biggio, Rodney K Edwards, Akila Subramaniam
OBJECTIVES: To evaluate the sensitivity of prenatal ultrasound (US) for trisomy (T18) diagnosis and describe US findings in a large tertiary care institution in the USA. MATERIALS AND METHODS: This was a retrospective cohort of all T18 cases diagnosed at our institution from October 2004-October 2014 based on prenatal or postnatal genetic diagnostic testing. We included all women with a fetus affected by T18 who had a comprehensive US by a maternal-fetal medicine specialist performed at our institution...
April 30, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29709707/consequences-of-mutations-and-inborn-errors-of-selenoprotein-biosynthesis-and-functions
#10
REVIEW
Noelia Fradejas-Villar
In its 200 years of history, selenium has been defined first as a toxic element and finally as a micronutrient. Selenium is incorporated into selenoproteins as selenocysteine (Sec), the 21st proteinogenic amino acid codified by a stop codon. Specific biosynthetic factors recode UGA stop codon as Sec. The significance of selenoproteins in human health is manifested through the identification of patients with inborn errors in selenoproteins or their biosynthetic factors. Selenoprotein N-related myopathy was the first disease identified due to mutations in a selenoprotein gene...
April 27, 2018: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29706646/comprehensive-genomic-analysis-of-patients-with-disorders-of-cerebral-cortical-development
#11
Wojciech Wiszniewski, Pawel Gawlinski, Tomasz Gambin, Monika Bekiesinska-Figatowska, Ewa Obersztyn, Dorota Antczak-Marach, Zeynep Hande Coban Akdemir, Tamar Harel, Ender Karaca, Marta Jurek, Katarzyna Sobecka, Beata Nowakowska, Malgorzata Kruk, Iwona Terczynska, Alicja Goszczanska-Ciuchta, Mariola Rudzka-Dybala, Ewa Jamroz, Antoni Pyrkosz, Anna Jakubiuk-Tomaszuk, Piotr Iwanowski, Dorota Gieruszczak-Bialek, Malgorzata Piotrowicz, Maria Sasiadek, Iwona Kochanowska, Barbara Gurda, Barbara Steinborn, Mateusz Dawidziuk, Jennifer Castaneda, Pawel Wlasienko, Natalia Bezniakow, Shalini N Jhangiani, Dorota Hoffman-Zacharska, Jerzy Bal, Elzbieta Szczepanik, Eric Boerwinkle, Richard A Gibbs, James R Lupski
Malformations of cortical development (MCDs) manifest with structural brain anomalies that lead to neurologic sequelae, including epilepsy, cerebral palsy, developmental delay, and intellectual disability. To investigate the underlying genetic architecture of patients with disorders of cerebral cortical development, a cohort of 54 patients demonstrating neuroradiologic signs of MCDs was investigated. Individual genomes were interrogated for single-nucleotide variants (SNV) and copy number variants (CNV) with whole-exome sequencing and chromosomal microarray studies...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29704302/familial-autosomal-dominant-severe-ankyloglossia-with-tooth-abnormalities
#12
Anaëlle Lenormand, Roman Khonsari, Pierre Corre, Jean Philippe Perrin, Cécile Boscher, Mathilde Nizon, Olivier Pichon, Albert David, Cedric Le Caignec, Helios Bertin, Bertrand Isidor
Ankyloglossia is a congenital oral anomaly characterized by the presence of a hypertrophic and short lingual frenulum. Mutations in the gene encoding the transcription factor TBX22 have been involved in isolated ankyloglossia and X-linked cleft palate. The knockout of Lgr5 in mice results in ankyloglossia. Here, we report a five-generation family including patients with severe ankyloglossia and missing lower central incisors. Two members of this family also exhibited congenital anorectal malformations. In this report, male-to-male transmission was in favor of an autosomal dominant inheritance, which allowed us to exclude the X-linked TBX22 gene...
April 28, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29703930/whole-exome-sequencing-reveals-rare-variants-linked-to-congenital-pouch-colon
#13
Praveen Mathur, Krishna Mohan Medicherla, Spandan Chaudhary, Mruduka Patel, Prashanth Bagali, Prashanth Suravajhala
We demonstrate the application of whole exome sequencing to discover the rare variants for congenital pouch colon, acronymed CPC. For 18 affected individuals in a total of 64 samples, we sequenced coding regions to a mean coverage of 100×. A sufficient depth of ca. 94% of targeted exomes was achieved. Filtering against the public SNP/variant repositories, we identified a host of candidate genes, EPB41L4A and CTC1 associated with colon, neural/brain muscles and Dyskeratosis Congenita maladies. Furthermore, the stop gain mutations in the form of JAG1,OR5AR1,SLC22A24,PEX16,TSPAN32,TAF1B,MAP2K3 and SLC25A19 appears to be localized to Chromosomes 2, 11, 17 and 20 in addition to the three stop lost mutants across three genes, viz...
April 27, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29703882/unusual-association-of-aniridia-with-aicardi-gouti%C3%A3-res-syndrome-related-congenital-glaucoma-in-a-tertiary-care-center
#14
Hebah M Musalem, Qais S Dirar, Selwa A F Al-Hazzaa, Abdul-Aziz A Al Zoba, Jeylan El-Mansoury
BACKGROUND Aicardi-Goutières syndrome (AGS) is a rare autosomal recessive encephalopathy of early onset. AGS visual dysfunction range from nystagmus and optic atrophy to cortical blindness in affected individuals; however, congenital glaucoma has been recently noticed among AGS pediatric patients. According to the literature, aniridia has never been recognized among AGS patients. CASE REPORT We report the case of a 4-year-old boy with AGS who had multiple congenital anomalies in the eyes. He was found to have congenital glaucoma, nystagmus, spherophakia with shallow chambers, and aniridia in both eyes...
April 28, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29697621/vascular-anomalies-from-a-clinicohistologic-to-a-genetic-framework
#15
Arin K Greene, Jeremy A Goss
BACKGROUND: Vascular anomalies currently are classified according to their clinical and histological characteristics. Recent advances in molecular genetics have enabled the identification of somatic mutations in most types of vascular anomalies. The purpose of this study was to collate information regarding the genetic basis of vascular anomalies. METHODS: The PubMed literature was reviewed for all citations that identified a mutation in a vascular anomaly between 1994 and 2017...
May 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29696744/ngs-testing-for-cardiomyopathy-utility-of-adding-rasopathy-associated-genes
#16
Ozge Ceyhan-Birsoy, Maya M Miatkowski, Elizabeth Hynes, Birgit H Funke, Heather Mason-Suares
RASopathies include a group of syndromes caused by pathogenic germline variants in RAS-MAPK pathway genes and typically present with facial dysmorphology, cardiovascular disease, and musculoskeletal anomalies. Recently, variants in RASopathy-associated genes have been reported in individuals with apparently non-syndromic cardiomyopathy, suggesting that subtle features may be overlooked. To determine the utility and burden of adding RASopathy-associated genes to cardiomyopathy panels, we tested 11 RASopathy-associated genes by next generation sequencing (NGS), including NGS-based copy number variant assessment, in 1,111 individuals referred for genetic testing for hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM)...
April 25, 2018: Human Mutation
https://www.readbyqxmd.com/read/29688748/high-resolution-3t-magnetic-resonance-findings-in-cochlear-hypoplasias-and-incomplete-partition-anomalies-a-pictorial-review
#17
Giacomo Talenti, Renzo Manara, Davide Brotto, Felice D'Arco
Inner ear malformations (IEMs), recognized by imaging in 20% of children with congenital sensorineural hearing loss (SNHL), can be caused by both genetic anomalies and environmental causes. Recent histopathologic studies have provided new insights on the anatomy and pathogenesis of incomplete partitions and cochlear hypoplasia, for which different subtypes have been identified. Current IEM's classification systems are radiologically based, and modern advances in MR imaging now allow distinction of such different subtypes in most of the cases...
April 24, 2018: British Journal of Radiology
https://www.readbyqxmd.com/read/29683851/detection-of-numerous-hiv-1-mo-recombinants-in-france
#18
Fabienne De Oliveira, Pierre Cappy, Véronique Lemée, Alice Moisan, Charlotte Pronier, Laurence Bocket, Magali Bouvier-Alias, Marie-Laure Chaix, Elyanne Gault, Odile Morvan, Jean-Dominique Poveda, Véronique Schneider, Marc Wirden, Elodie Alessandri-Gradt, Thomas Mourez, Jean-Christophe Plantier
BACKGROUND: The broad genetic divergence of HIV-1/O relative to HIV-1/M has important implications for diagnosis, monitoring and treatment. Despite this divergence, some HIV-1/M+O dual infections and HIV-1/MO recombinant forms have been reported, mostly in Cameroon, where both groups are prevalent. Here, we describe the characteristics of such infections detected in France in 10 new patients, and discuss their implications for biological and clinical practice, owing to the presence of group O species...
April 19, 2018: AIDS
https://www.readbyqxmd.com/read/29681087/autosomal-recessive-otofaciocervical-syndrome-type-2-with-novel-homozygous-small-insertion-in-pax1-gene
#19
Siddaramappa Jagdish Patil, Aneek Das Bhowmik, Venkatraman Bhat, Venugopal Satidevi Vineeth, Rashmi Vasudevamurthy, Ashwin Dalal
Otofaciocervical syndrome (OTFCS) is described as a single gene disorder of both autosomal dominant and autosomal recessive inheritance. The major clinical features of OTFCS include ear malformations (external/middle/inner ear), facial dysmorphism, shoulder girdle abnormalities, vertebral anomalies, and mild intellectual disability. The autosomal recessive form of OTFCS syndrome (OTFCS2) has been recently reported to be caused due to homozygous mutations in PAX1 gene. Here we report a third family of OTFCS2 phenotype wherein whole exome sequencing identified a novel homozygous small insertion in PAX1 as the underlying genetic cause...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29681083/novel-de-novo-zbtb20-mutations-in-three-cases-with-primrose-syndrome-and-constant-corpus-callosum-anomalies
#20
Caroline Alby, Lucile Boutaud, Bettina Bessières, Valérie Serre, Marlene Rio, Valerie Cormier-Daire, Judith de Oliveira, Amale Ichkou, Linda Mouthon, Christopher T Gordon, Maryse Bonnière, Charlotte Mechler, Patrick Nitschke, Christine Bole, Stanislas Lyonnet, Nadia Bahi-Buisson, Nathalie Boddaert, Laurence Colleaux, Philippe Roth, Yves Ville, Michel Vekemans, Féréchté Encha-Razavi, Tania Attié-Bitach, Sophie Thomas
Corpus callosum (CC) is the major brain commissure connecting homologous areas of cerebral hemispheres. CC anomalies (CCAs) are the most frequent brain anomalies leading to variable neurodevelopmental outcomes making genetic counseling difficult in the absence of a known etiology that might inform the prognosis. Here, we used whole exome sequencing, and a targeted capture panel of syndromic CCA known causal and candidate genes to screen a cohort of 64 fetuses with CCA observed upon autopsy, and 34 children with CCA and intellectual disability...
May 2018: American Journal of Medical Genetics. Part A
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