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European Journal of Human Genetics: EJHG

Semyon Reznik, Victor Fet
No abstract text is available yet for this article.
May 14, 2019: European Journal of Human Genetics: EJHG
Francesca Forzano
No abstract text is available yet for this article.
May 14, 2019: European Journal of Human Genetics: EJHG
Paulien A Terhal, Judith M Vlaar, Sjors Middelkamp, Rutger A J Nievelstein, Peter G J Nikkels, Jamila Ross, Marijn Créton, Jeroen W Bos, Elsbeth S M Voskuil-Kerkhof, Edwin Cuppen, Nine Knoers, Koen L I van Gassen
RNA polymerase III (Pol III) is an essential 17-subunit complex responsible for the transcription of small housekeeping RNAs such as transfer RNAs and 5S ribosomal RNA. Biallelic variants in four genes (POLR3A, POLR3B, and POLR1C and POLR3K) encoding Pol III subunits have previously been found in individuals with (neuro-) developmental disorders. In this report, we describe three individuals with biallelic variants in POLR3GL, a gene encoding a Pol III subunit that has not been associated with disease before...
May 14, 2019: European Journal of Human Genetics: EJHG
Laurent Pasquier, Bertrand Isidor, Emmanuelle Rial-Sebbag, Sylvie Odent, Guy Minguet, Grégoire Moutel
No abstract text is available yet for this article.
May 8, 2019: European Journal of Human Genetics: EJHG
Swati Tomar, Raman Sethi, Poh San Lai
Selection and prioritization of phenotype-centric variants remains a challenging part of variant analysis and interpretation in clinical exome sequencing. Phenotype-driven shortlisting of patient-specific gene lists can avoid missed diagnosis. Here, we analyzed the relevance of using primary Human Phenotype Ontology identifiers (HPO IDs) in prioritizing Mendelian disease genes across 30 in-house, 10 previously reported, and 10 recently published cases using three popular web-based gene prioritization tools (OMIMExplorer, VarElect & Phenolyzer)...
May 3, 2019: European Journal of Human Genetics: EJHG
Clara Serra-Juhe, Eduardo F Tizzano
Spinal muscular atrophy (SMA) is an autosomal-recessive neuromuscular disorder representing a continuous spectrum of muscular weakness ranging from compromised neonates to adults with minimal manifestations. Patients show homozygous absence or disease-causing variants of the SMN1 gene (-/- or 0/0) and in carriers only one copy is absent or mutated (1/0). Genetic diagnosis and counseling in SMA present several challenges, including the existence of carriers (2/0) that are undistinguishable of non-carriers (1/1) with current genetic testing methods and the report of patients (0/0) with very mild manifestations and even asymptomatic that are discovered when a full symptomatic case appears in the family...
May 3, 2019: European Journal of Human Genetics: EJHG
Antony P Martin, Gabriel Pedra, Jennifer Downing, Brendan Collins, Brian Godman, Ana Alfirevic, Munir Pirmohamed, Kathryn Lynn Greenhalgh
BRCA testing received much publicity following Angelina Jolie's editorial "My Medical Choice" in May 2013 and updated NICE clinical guidance (CG164) in June 2013. We assessed the effect of these two concurrent events on BRCA testing in one UK catchment area and relate this to socioeconomic deprivation. A database of 1393 patients who received BRCA testing was collated. This included individuals with breast/ovarian cancer, and those unaffected by cancer, where a relative has a ≥10% probability of carrying a BRCA variant which affects function...
May 3, 2019: European Journal of Human Genetics: EJHG
Patrick R Blackburn, Cinthya J Zepeda-Mendoza, Teresa M Kruisselbrink, Lisa A Schimmenti, Sixto García-Miñaur, María Palomares, Julián Nevado, María A Mori, Guylène Le Meur, Eric W Klee, Cédric Le Caignec, Pablo Lapunzina, Bertrand Isidor, Dusica Babovic-Vuksanovic
Microphthalmia with brain and digital anomalies (MCOPS6, MIM# 607932) is an autosomal dominant disorder caused by loss-of-function variants or large deletions involving BMP4, which encodes bone morphogenetic protein 4, a member of the TGF-β protein superfamily. BMP4 has a number of roles in embryonic development including neurogenesis, lens induction, development of cartilage and bone, urogenital development, limb and digit patterning, hair follicle regeneration, as well as tooth formation. In addition to syndromic microphthalmia, BMP4 variants have been implicated in non-syndromic cleft lip with or without cleft palate and congenital healed cleft lip indicating different allelic presentations...
May 3, 2019: European Journal of Human Genetics: EJHG
Iván Pérez-Núñez, Mohamad Karaky, María Fedetz, Cristina Barrionuevo, Guillermo Izquierdo, Fuencisla Matesanz, Antonio Alcina
Long-chain Acyl-CoA synthetases (ACSLs) activate fatty acids (FAs) by thioesterification with Coenzyme A (CoA), generating FA-CoAs. These products are essential for lipid metabolism and carcinogenesis. In previous study, we identified an intronic variant rs2256368:A>G, whose G allele promotes exon 20 skipping in up to 43% of ACSL5 transcripts but its functional relevance is unclear. Here, we compared the expression of splice (Spl) and nonsplice (NSpl) ACSL5 variants and the effect on cell viability under culture conditions that force cells to metabolize fatty acids...
May 3, 2019: European Journal of Human Genetics: EJHG
Imen Chakchouk, Di Zhang, Zhihui Zhang, Laurent C Francioli, Regie Lyn P Santos-Cortez, Isabelle Schrauwen, Suzanne M Leal
Hearing impairment (HI) is characterized by extensive genetic heterogeneity. To determine the population-specific contribution of known autosomal recessive nonsyndromic (ARNS)HI genes and variants to HI etiology; pathogenic and likely pathogenic (PLP) ARNSHI variants were selected from ClinVar and the Deafness Variation Database and their frequencies were obtained from gnomAD for seven populations. ARNSHI prevalence due to PLP variants varies greatly by population ranging from 96.9 affected per 100,000 individuals for Ashkenazi Jews to 5...
May 3, 2019: European Journal of Human Genetics: EJHG
Lieke M van den Heuvel, Mette J Huisinga, Yvonne M Hoedemaekers, Annette F Baas, Mirjam Plantinga, Lidewij Henneman, J Peter van Tintelen, Ellen M A Smets, Imke Christiaans
Inherited cardiac conditions (ICCs) can lead to sudden cardiac death at young age, even without previous symptoms, yet often remain undetected. To prevent sudden cardiac death, cardiac monitoring and/or predictive DNA testing is advised for at-risk relatives. Probands in whom a causal variant is detected are asked to inform their relatives about the possibility of testing, often supported by a family letter. This qualitative study investigates experiences with and attitudes toward this family-mediated approach in ICCs and explores whether and how improvements can be made...
May 3, 2019: European Journal of Human Genetics: EJHG
Zihai Li
No abstract text is available yet for this article.
May 3, 2019: European Journal of Human Genetics: EJHG
María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Marcello Bellusci, Ana Martínez de Aragón, Laura Hernández-Sánchez, Patricia Carnicero-Rodríguez, Elena Martín-Hernández, Francisco Martínez-Azorín
We report the clinical, biochemical and genetic findings from a Spanish girl of Caucasian origin who presented with macrocephaly, dysmorphic facial features, developmental delay, hypotonia, combined oxidative phosphorylation (OxPhos) deficiency, epilepsy and anti-phospholipid antibodies (aPL). Whole-exome sequencing (WES) uncovered a heterozygous variant in the MTOR gene (NM_004958.3: c.7235A>T: p.(Asp2412Val)) that encodes for the Serine/threonine-protein kinase mTOR. The substrates phosphorylation experiments demonstrated that this variant exerts its effect by gain-of-function (GOF) and autosomal dominant mechanism...
May 3, 2019: European Journal of Human Genetics: EJHG
Daniel Moreno-Mendoza, Elena Casamonti, Donatella Paoli, Chiara Chianese, Antoni Riera-Escamilla, Claudia Giachini, Maria Grazia Fino, Francesca Cioppi, Francesco Lotti, Serena Vinci, Angela Magini, Elisabet Ars, Josvany Sanchez-Curbelo, Eduard Ruiz-Castane, Andrea Lenzi, Francesco Lombardo, Csilla Krausz
The association between impaired spermatogenesis and TGCT has stimulated research on shared genetic factors. Y chromosome-linked partial AZFc deletions predispose to oligozoospermia and were also studied in TGCT patients with controversial results. In the largest study reporting the association between gr/gr deletion and TGCT, sperm parameters were unknown. Hence, it remains to be established whether this genetic defect truly represents a common genetic link between TGCT and impaired sperm production. Our aim was to explore the role of the following Y chromosome-linked factors in the predisposition to TGCT: (i) gr/gr deletion in subjects with known sperm parameters; (ii) other partial AZFc deletions and, for the first time, the role of partial AZFc duplications; (iii) DAZ gene dosage variation...
May 3, 2019: European Journal of Human Genetics: EJHG
Alejandra Vergara-Lope, Sarah Ennis, Igor Vorechovsky, Reuben J Pengelly, Andrew Collins
Whole-genome sequence data enable construction of high-resolution linkage disequilibrium (LD) maps revealing the LD structure of functional elements within genic and subgenic sequences. The Malecot-Morton model defines LD map distances in linkage disequilibrium units (LDUs), analogous to the centimorgan scale of linkage maps. For whole-genome sequence-derived LD maps, we introduce the ratio of corresponding map lengths kilobases/LDU to describe the extent of LD within genome components. The extent of LD is highly variable across the genome ranging from ~38 kb for intergenic sequences to ~858 kb for centromeric regions...
May 3, 2019: European Journal of Human Genetics: EJHG
Eugenio Sangiorgi, Alessia Azzarà, Clelia Molinario, Roberta Pietrobono, Donato Rigante, Elena Verrecchia, Ludovico Luca Sicignano, Maurizio Genuardi, Fiorella Gurrieri, Raffaele Manna
PFAPA is an autoinflammatory syndrome characterized by periodic fever, aphthous stomatitis, sterile pharingitis, and adenitis, with an onset usually before the age of five. While the condition is most commonly sporadic, a few cases are familial and are usually compatible with an autosomal dominant (AD) transmission pattern, with reduced penetrance in some pedigrees. We performed exome analysis in a family where PFAPA was present in three relatives in two generations showing apparent AD segregation, identifying several rare and/or novel heterozygous variants in genes involved in the autoinflammatory pathway...
May 3, 2019: European Journal of Human Genetics: EJHG
Christian Paludan-Müller, Jonas Ghouse, Oliver B Vad, Cecilie B Herfelt, Pia Lundegaard, Gustav Ahlberg, Nicole Schmitt, Jesper H Svendsen, Stig Haunsø, Henning Bundgaard, Torben Hansen, Jørgen K Kanters, Morten S Olesen
We aimed to investigate the pathogenicity of cardiac ion channel variants previously associated with SIDS. We reviewed SIDS-associated variants previously reported in databases and the literature in three large population-based cohorts; The ExAC database, the Inter99 study, and the UK Biobank (UKBB). Variants were classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Of the 92 SIDS-associated variants, 59 (64%) were present in ExAC, 18 (20%) in Inter99, and 24 (26%) in UKBB...
May 1, 2019: European Journal of Human Genetics: EJHG
(no author information available yet)
No abstract text is available yet for this article.
April 25, 2019: European Journal of Human Genetics: EJHG
Lisa G Riley, Leigh B Waddell, Roula Ghaoui, Frances J Evesson, Beryl B Cummings, Samantha J Bryen, Himanshu Joshi, Min-Xia Wang, Susan Brammah, Leonard Kritharides, Alastair Corbett, Daniel G MacArthur, Sandra T Cooper
We establish autosomal recessive DES variants p.(Leu190Pro) and a deep intronic splice variant causing inclusion of a frameshift-inducing artificial exon/intronic fragment, as the likely cause of myopathy with cardiac involvement in female siblings. Both sisters presented in their twenties with slowly progressive limb girdle weakness, severe systolic dysfunction, and progressive, severe respiratory weakness. Desmin is an intermediate filament protein typically associated with autosomal dominant myofibrillar myopathy with cardiac involvement...
April 25, 2019: European Journal of Human Genetics: EJHG
Christel Thauvin-Robinet, Julien Thevenon, Sophie Nambot, Julian Delanne, Paul Kuentz, Ange-Line Bruel, Aline Chassagne, Elodie Cretin, Aurore Pelissier, Chritine Peyron, Elodie Gautier, Daphné Lehalle, Nolwenn Jean-Marçais, Patrick Callier, Anne-Laure Mosca-Boidron, Antonio Vitobello, Arthur Sorlin, Frédéric Tran Mau-Them, Christophe Philippe, Pierre Vabres, Laurent Demougeot, Charlotte Poé, Thibaud Jouan, Martin Chevarin, Mathilde Lefebvre, Marc Bardou, Emilie Tisserant, Maxime Luu, Christine Binquet, Jean-François Deleuze, Céline Verstuyft, Yannis Duffourd, Laurence Faivre
With exome/genome sequencing (ES/GS) integrated into the practice of medicine, there is some potential for reporting incidental/secondary findings (IFs/SFs). The issue of IFs/SFs has been studied extensively over the last 4 years. In order to evaluate their implications in care organisation, we retrospectively evaluated, in a cohort of 700 consecutive probands, the frequency and burden of introducing the search for variants in a maximum list of 244 medically actionable genes (genes that predispose carriers to a preventable or treatable disease in childhood/adulthood and genes for genetic counselling issues)...
April 24, 2019: European Journal of Human Genetics: EJHG
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