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Journal of Medical Genetics

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https://www.readbyqxmd.com/read/29025870/genetic-landscape-of-interactive-effects-of-hla-drb1-alleles-on-susceptibility-to-acpa-rheumatoid-arthritis-and-acpa-levels-in-japanese-population
#1
Chikashi Terao, Yukinori Okada, Katsunori Ikari, Yuta Kochi, Akari Suzuki, Koichiro Ohmura, Keitaro Matsuo, Atsuo Taniguchi, Michiaki Kubo, Soumya Raychaudhuri, Kazuhiko Yamamoto, Hisashi Yamanaka, Yoichiro Kamatani, Tsuneyo Mimori, Fumihiko Matsuda
BACKGROUND: HLA-DRB1 is the strongest susceptibility gene to rheumatoid arthritis (RA). HLA-DRB1 alleles showed significant non-additive and interactive effects on susceptibility to RA in the European population, but these effects on RA susceptibility should vary between populations due to the difference in allelic distribution. Furthermore, non-additive or interactive effects on the phenotypes of RA are not fully known. We evaluated the non-additive and interactive effects of HLA-DRB1 alleles on RA susceptibility and anticitrullinated protein/peptide antibody (ACPA) levels in Japanese patients...
October 12, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29021403/heterozygous-mutations-affecting-the-protein-kinase-domain-of-cdk13-cause-a-syndromic-form-of-developmental-delay-and-intellectual-disability
#2
Mark J Hamilton, Richard C Caswell, Natalie Canham, Trevor Cole, Helen V Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury-Ecob, Soo-Mi Park, Leema Robert, Cecilie F Rustad, Emma Wakeling, Andrew O M Wilkie, The Deciphering Developmental Disorders Study, Stephen R F Twigg, Mohnish Suri
INTRODUCTION: Recent evidence has emerged linking mutations in CDK13 to syndromic congenital heart disease. We present here genetic and phenotypic data pertaining to 16 individuals with CDK13 mutations. METHODS: Patients were investigated by exome sequencing, having presented with developmental delay and additional features suggestive of a syndromic cause. RESULTS: Our cohort comprised 16 individuals aged 4-16 years. All had developmental delay, including six with autism spectrum disorder...
October 11, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29018042/gwas-on-prolonged-gestation-post-term-birth-analysis-of-successive-finnish-birth-cohorts
#3
William Schierding, Jisha Antony, Ville Karhunen, Marja Vääräsmäki, Steve Franks, Paul Elliott, Eero Kajantie, Sylvain Sebert, Alex Blakemore, Julia A Horsfield, Marjo-Riitta Järvelin, Justin M O'Sullivan, Wayne S Cutfield
BACKGROUND: Gestation is a crucial timepoint in human development. Deviation from a term gestational age correlates with both acute and long-term adverse health effects for the child. Both being born preterm and post-term, that is, having short and long gestational ages, are heritable and influenced by the prenatal and perinatal environment. Despite the obvious heritable component, specific genetic influences underlying differences in gestational age are poorly understood. METHODS: We investigated the genetic architecture of gestational age in 9141 individuals, including 1167 born post-term, across two Northern Finland cohorts born in 1966 or 1986...
October 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28993434/inherited-mutations-in-brca1-and-brca2-in-an-unselected-multiethnic-cohort-of-asian-patients-with-breast-cancer-and-healthy-controls-from-malaysia
#4
Wei Xiong Wen, Jamie Allen, Kah Nyin Lai, Shivaani Mariapun, Siti Norhidayu Hasan, Pei Sze Ng, Daphne Shin-Chi Lee, Sheau Yee Lee, Sook-Yee Yoon, Joanna Lim, Shao Yan Lau, Brennan Decker, Karen Pooley, Leila Dorling, Craig Luccarini, Caroline Baynes, Don M Conroy, Patricia Harrington, Jacques Simard, Cheng Har Yip, Nur Aishah Mohd Taib, Weang Kee Ho, Antonis C Antoniou, Alison M Dunning, Douglas F Easton, Soo Hwang Teo
BACKGROUND: Genetic testing for BRCA1 and BRCA2 is offered typically to selected women based on age of onset and family history of cancer. However, current internationally accepted genetic testing referral guidelines are built mostly on data from cancer genetics clinics in women of European descent. To evaluate the appropriateness of such guidelines in Asians, we have determined the prevalence of germ line variants in an unselected cohort of Asian patients with breast cancer and healthy controls...
October 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28954837/clinical-laboratory-and-molecular-findings-and-long-term-follow-up-data-in-96-french-patients-with-pmm2-cdg-phosphomannomutase-2-congenital-disorder-of-glycosylation-and-review-of-the-literature
#5
Manuel Schiff, Céline Roda, Marie-Lorraine Monin, Alina Arion, Magali Barth, Nathalie Bednarek, Maud Bidet, Catherine Bloch, Nathalie Boddaert, Delphine Borgel, Anaïs Brassier, Alexis Brice, Arnaud Bruneel, Roger Buissonnière, Brigitte Chabrol, Marie-Chantal Chevalier, Valérie Cormier-Daire, Claire De Barace, Emmanuel De Maistre, Anne De Saint-Martin, Nathalie Dorison, Valérie Drouin-Garraud, Thierry Dupré, Bernard Echenne, Patrick Edery, François Feillet, Isabelle Fontan, Christine Francannet, François Labarthe, Cyril Gitiaux, Delphine Héron, Marie Hully, Sylvie Lamoureux, Dominique Martin-Coignard, Cyril Mignot, Gilles Morin, Tiffany Pascreau, Olivier Pincemaille, Michel Polak, Agathe Roubertie, Christel Thauvin-Robinet, Annick Toutain, Géraldine Viot, Sandrine Vuillaumier-Barrot, Nathalie Seta, Pascale De Lonlay
BACKGROUND: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a multisystem inborn error of metabolism. OBJECTIVES: To better characterise the natural history of PMM2-CDG. METHODS: Medical charts of 96 patients with PMM2-CDG (86 families, 41 males, 55 females) were retrospectively reviewed. Data on clinical, laboratory and molecular parameters at diagnosis were analysed. Follow-up data at last examination were reported for 25 patients...
September 27, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28947560/correction-amelogenesis-imperfecta-in-familial-hypomagnesaemia-and-hypercalciuria-with-nephrocalcinosis-caused-by-cldn19-gene-mutations
#6
LETTER
(no author information available yet)
No abstract text is available yet for this article.
September 25, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28918392/cnvs-affecting-cancer-predisposing-genes-cpgs-detected-as-incidental-findings-in-routine-germline-diagnostic-chromosomal-microarray-cma-testing
#7
Josie Innes, Lisa Reali, Jill Clayton-Smith, Georgina Hall, Derek Hk Lim, George J Burghel, Kim French, Unzela Khan, Daniel Walker, Fiona Lalloo, D Gareth R Evans, Dominic McMullan, Eamonn R Maher, Emma R Woodward
BACKGROUND: Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer predisposition gene (CPG), limited information is available on the frequency and nature of such results. METHODS: We investigated CNV gains and losses affecting 39 CPGs in 3366 pilot index case individuals undergoing CMA testing, and then studied an extended cohort (n=10 454) for CNV losses at 105 CPGs and CNV gains at 9 proto-oncogenes implicated in inherited cancer susceptibility...
September 16, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28916646/serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family
#8
Benjamin Roeben, Rebecca Schüle, Susanne Ruf, Benjamin Bender, Bader Alhaddad, Tanja Benkert, Thomas Meitinger, Selina Reich, Judith Böhringer, Claus-Dieter Langhans, Frédéric M Vaz, Saskia B Wortmann-Hagemann, Thorsten Marquardt, Tobias B Haack, Ingeborg Krägeloh-Mann, Ludger Schöls, Matthis Synofzik
OBJECTIVE: To demonstrate that mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP) clusters, thus adding SERAC1 to the increasing number of complex lipid cHSP genes. METHODS: Combined genomic and functional validation studies (whole-exome sequencing, mRNA, cDNA and protein), biomarker investigations (3-methyl-glutaconic acid, filipin staining and phosphatidylglycerols PG34:1/PG36:1), and clinical and imaging phenotyping were performed in six affected subjects from two different branches of a large consanguineous family...
September 15, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28866612/dna-repair-related-functional-assays-for-the-classification-of-brca1-and-brca2-variants-a-critical-review-and-needs-assessment
#9
REVIEW
Amanda Ewart Toland, Paul R Andreassen
Mutation of BRCA1 and BRCA2 is the most common cause of inherited breast and ovarian cancer. Genetic screens to detect carriers of variants can aid in cancer prevention by identifying individuals with a greater cancer risk and can potentially be used to predict the responsiveness of tumours to therapy. Frequently, classification cannot be performed based on traditional approaches such as segregation analyses, including for many missense variants, which are therefore referred to as variants of uncertain significance (VUS)...
September 2, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28866611/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability
#10
Genay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, Leandros Boukas, Megan T Cho, Christina A Gurnett, Paul J Benke, Erin Beaver, Jennifer M Heeley, Livija Medne, Ian D Krantz, Meron Azage, Dmitriy Niyazov, Lindsay B Henderson, Ingrid M Wentzensen, Berivan Baskin, Maria J Guillen Sacoto, Gregory D Bowman, Hans T Bjornsson
BACKGROUND: The list of Mendelian disorders of the epigenetic machinery has expanded rapidly during the last 5 years. A few missense variants in the chromatin remodeler CHD1 have been found in several large-scale sequencing efforts focused on uncovering the genetic aetiology of autism. OBJECTIVES: To explore whether variants in CHD1 are associated with a human phenotype. METHODS: We used GeneMatcher to identify other physicians caring for patients with variants in CHD1...
September 2, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28848061/hypothesis-lobe-a-cog1-4-cdg-causes-a-more-severe-phenotype-than-lobe-b-cog5-8-cdg
#11
Hanneke A Haijes, Jaak Jaeken, François Foulquier, Peter M van Hasselt
The conserved oligomeric Golgi (COG) complex consists of eight subunits organized in two lobes: lobe A (COG1-4) and lobe B (COG5-8). The different functional roles of COG lobe A and lobe B might result in distinct clinical phenotypes in patients with COG-CDG (congenital disorders of glycosylation). This hypothesis is supported by three observations. First, knock-down of COG lobe A components affects Golgi morphology more severely than knock-down of COG lobe B components. Second, nearly all of the 27 patients with lobe B COG-CDG had bi-allelic truncating mutations, as compared with only one of the six patients with lobe A COG-CDG...
August 28, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28848059/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation
#12
Ikumi Hori, Rie Kawamura, Kazuhiko Nakabayashi, Hidetaka Watanabe, Ken Higashimoto, Junko Tomikawa, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Yoshitsugu Sugio, Keiko Wakui, Kenichiro Hata, Hidenobu Soejima, Kenji Kurosawa, Shinji Saitoh
BACKGROUND: Heterozygous mutations in CTCF have been reported in patients with distinct clinical features including intellectual disability. However, the precise pathomechanism underlying the phenotype remains to be uncovered, partly because of the diverse function of CTCF. Here we describe extensive clinical and genetic investigation for two patients with a microdeletion encompassing CTCF. METHODS: We performed genetic examination including comprehensive investigation of X chromosome inactivation and DNA methylation profiling at imprinted loci and genome-wide...
August 28, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28835481/incremental-cost-effectiveness-of-algorithm-driven-genetic-testing-versus-no-testing-for-maturity-onset-diabetes-of-the-young-mody-in-singapore
#13
Hai Van Nguyen, Eric Andrew Finkelstein, Shweta Mital, Daphne Su-Lyn Gardner
BACKGROUND: Offering genetic testing for Maturity Onset Diabetes of the Young (MODY) to all young patients with type 2 diabetes has been shown to be not cost-effective. This study tests whether a novel algorithm-driven genetic testing strategy for MODY is incrementally cost-effective relative to the setting of no testing. METHODS: A decision tree was constructed to estimate the costs and effectiveness of the algorithm-driven MODY testing strategy and a strategy of no genetic testing over a 30-year time horizon from a payer's perspective...
August 23, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28835480/fabry-disease-characterisation-of-the-plasma-proteome-pre-and-post-enzyme-replacement-therapy
#14
Sun Hee Heo, Eungu Kang, Yoon-Myung Kim, Heounjeong Go, Kyung Yong Kim, Jae Yong Jung, Minji Kang, Gu-Hwan Kim, Jae-Min Kim, In-Hee Choi, Jin-Ho Choi, Sung-Chul Jung, Robert J Desnick, Han-Wook Yoo, Beom Hee Lee
BACKGROUND: Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation. We analysed plasma proteome profiles before and after ERT to characterise its molecular pathology. METHODS: Two-dimensional electrophoresis and matrix-assisted laser desorption/ionisation-time of flight tandem mass spectrometry (MALDI-TOF MS) and tandem mass spectrometry (MS/MS) were done using plasma samples before and after ERT in eight patients with classical Fabry disease RESULTS: After short-term ERT (4-12 months), the levels of 15 plasma proteins involved in inflammation, oxidative and ischaemic injury, or complement activation were reduced significantly...
August 23, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28830906/autosomal-recessive-chondrodysplasia-with-severe-short-stature-caused-by-a-biallelic-col10a1-variant
#15
Noor Ul Ain, Outi Makitie, Sadaf Naz
BACKGROUND: Heterozygous mutations in COL10A1 underlie metaphyseal chondrodysplasia, Schmid type (MCDS), an autosomal dominant skeletal dysplasia. OBJECTIVE: To identify the causative variant in a large consanguineous Pakistani family with severe skeletal dysplasia and marked lower limb deformity. METHODS: Whole exome sequencing was completed followed by Sanger sequencing to verify segregation of the identified variants. In silico variant pathogenicity predictions and amino acid conservation analyses were performed...
August 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28822975/choosing-wisely-canada-the-canadian-college-of-medical-geneticists-ccmg-list-of-five-items-physicians-and-patients-should-question
#16
EDITORIAL
Elaine Goh, Andrea Guerin, Joanna Lazier, Sharan Goobie, Tanya N Nelson, Ron Agatep, Victoria Mok Siu, Karen Y Niederhoffer, Julie Richer
No abstract text is available yet for this article.
August 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28814606/their-loss-is-our-gain-regressive-evolution-in-vertebrates-provides-genomic-models-for-uncovering-human-disease-loci
#17
REVIEW
Christopher A Emerling, Andrew D Widjaja, Nancy N Nguyen, Mark S Springer
Throughout Earth's history, evolution's numerous natural 'experiments' have resulted in a diverse range of phenotypes. Though de novo phenotypes receive widespread attention, degeneration of traits inherited from an ancestor is a very common, yet frequently neglected, evolutionary path. The latter phenomenon, known as regressive evolution, often results in vertebrates with phenotypes that mimic inherited disease states in humans. Regressive evolution of anatomical and/or physiological traits is typically accompanied by inactivating mutations underlying these traits, which frequently occur at loci identical to those implicated in human diseases...
August 16, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28794131/heterogeneous-clinical-spectrum-of-dnajc12-deficient-hyperphenylalaninemia-from-attention-deficit-to-severe-dystonia-and-intellectual-disability
#18
Francjan J van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht, Nan Shen, Danique van Vliet, Mohammed Al-Owain, Khushnooda Ramzan, Salwa M Alkhalifi, Roelineke J Lunsing, Rebecca M Heiner-Fokkema, Anahita Rassi, Corinne Gemperle-Britschgi, Georg F Hoffmann, Nenad Blau, Beat Thöny
BACKGROUND: Autosomal recessive mutations in DNAJC12, encoding a cochaperone of HSP70 with hitherto unknown function, were recently described to lead to hyperphenylalaninemia, central monoamine neurotransmitter (dopamine and serotonin) deficiency, dystonia and intellectual disability in six subjects affected by homozygous variants. OBJECTIVE: Patients exhibiting hyperphenylalaninemia in whom deficiencies in hepatic phenylalanine hydroxylase and tetrahydrobiopterin cofactor metabolism had been excluded were subsequently analysed for DNAJC12 variants...
August 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28794130/mutations-in-scaper-cause-autosomal-recessive-retinitis-pigmentosa-with-intellectual-disability
#19
Yasmin Tatour, Iker Sanchez-Navarro, Elana Chervinsky, Hakon Hakonarson, Haithum Gawi, Saoud Tahsin-Swafiri, Rina Leibu, Maria Isabel Lopez-Molina, Guillermo Fernandez-Sanz, Carmen Ayuso, Tamar Ben-Yosef
BACKGROUND: Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, with a worldwide prevalence of 1 in 4000 persons. While in most cases of RP, the disease is limited to the eye (non-syndromic), over 40 forms of syndromic RP have been described. OBJECTIVES: To identify the genetic basis for syndromic RP in three unrelated families from Israel and Spain. METHODS: Whole exome sequencing was conducted in one Israeli and two Spanish families segregating autosomal recessive RP with intellectual disability...
August 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28780565/clinical-genetic-testing-using-a-custom-designed-steroid-resistant-nephrotic-syndrome-gene-panel-analysis-and-recommendations
#20
Ethan S Sen, Philip Dean, Laura Yarram-Smith, Agnieszka Bierzynska, Geoff Woodward, Chris Buxton, Gemma Dennis, Gavin I Welsh, Maggie Williams, Moin A Saleem
BACKGROUND: There are many single-gene causes of steroid-resistant nephrotic syndrome (SRNS) and the list continues to grow rapidly. Prompt comprehensive diagnostic testing is key to realising the clinical benefits of a genetic diagnosis. This report describes a bespoke-designed, targeted next-generation sequencing (NGS) diagnostic gene panel assay to detect variants in 37 genes including the ability to identify copy number variants (CNVs). METHODS: This study reports results of 302 patients referred for SRNS diagnostic gene panel analysis...
August 5, 2017: Journal of Medical Genetics
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