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Journal of Medical Genetics

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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
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28780564/a-common-slc26a4-linked-haplotype-underlying-non-syndromic-hearing-loss-with-enlargement-of-the-vestibular-aqueduct
#6
Parna Chattaraj, Tina Munjal, Keiji Honda, Nanna D Rendtorff, Jessica S Ratay, Julie A Muskett, Davide S Risso, Isabelle Roux, E Michael Gertz, Alejandro A Schäffer, Thomas B Friedman, Robert J Morell, Lisbeth Tranebjærg, Andrew J Griffith
BACKGROUND: Enlargement of the vestibular aqueduct (EVA) is the most common radiological abnormality in children with sensorineural hearing loss. Mutations in coding regions and splice sites of the SLC26A4 gene are often detected in Caucasians with EVA. Approximately one-fourth of patients with EVA have two mutant alleles (M2), one-fourth have one mutant allele (M1) and one-half have no mutant alleles (M0). The M2 genotype is correlated with a more severe phenotype. METHODS: We performed genotype-haplotype analysis and massively parallel sequencing of the SLC26A4 region in patients with M1 EVA and their families...
August 5, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28779004/association-between-the-lynch-syndrome-gene-msh2-and-breast-cancer-susceptibility-in-a-canadian-familial-cancer-registry
#7
Mira Goldberg, Kathleen Bell, Melyssa Aronson, Kara Semotiuk, Greg Pond, Steven Gallinger, Kevin Zbuk
BACKGROUND: Previous studies assessing breast cancer risk in families with Lynch syndrome (LS) have yielded conflicting results. Furthermore, conclusions are limited by small sample size and few breast cancer outcomes. This study assesses breast cancer risk in a large prospectively followed LS cohort. METHODS: Pedigrees of 325 unrelated families with LS within the Familial Gastrointestinal Cancer Registry in Canada were examined for breast cancer diagnoses. Standardised incidence ratios (SIR) and lifetime cumulative incidence calculations were used to compare the incidence of breast cancer in mutation carriers with the general population...
August 4, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28779003/novel-idiopathic-dcm-related-scn5a-variants-localised-in-di-s4-predispose-electrical-disorders-by-reducing-peak-sodium-current-density
#8
Cheng Shen, Lei Xu, Shasha Han, Zhen Dong, Xiaona Zhao, Shaochun Wang, Sanli Qian, Bingyu Li, Xin Ma, Peng Wang, Hong Zhu, Yunzeng Zou, Zheng Fan, Junbo Ge, Aijun Sun
BACKGROUND: Variants of SCN5A, encoding cardiac sodium channel, have been linked to the development of dilated cardiomyopathy (DCM). We aimed to explore novel SCN5A variants in patients with idiopathic DCM (iDCM) and to identify the distribute characteristics and pathological mechanisms as well as clinical phenotypes associated with the variants in patients with iDCM. METHODS: SCN5A exons sequencing was performed inpatients with iDCM (n=90) and two control cohorts (arrhythmias group, n=90, and healthy group, n=195)...
August 4, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28779002/rare-protein-truncating-variants-in-atm-chek2-and-palb2-but-not-xrcc2-are-associated-with-increased-breast-cancer-risks
#9
Brennan Decker, Jamie Allen, Craig Luccarini, Karen A Pooley, Mitul Shah, Manjeet K Bolla, Qin Wang, Shahana Ahmed, Caroline Baynes, Don M Conroy, Judith Brown, Robert Luben, Elaine A Ostrander, Paul Dp Pharoah, Alison M Dunning, Douglas F Easton
BACKGROUND: Breast cancer (BC) is the most common malignancy in women and has a major heritable component. The risks associated with most rare susceptibility variants are not well estimated. To better characterise the contribution of variants in ATM, CHEK2, PALB2 and XRCC2, we sequenced their coding regions in 13 087 BC cases and 5488 controls from East Anglia, UK. METHODS: Gene coding regions were enriched via PCR, sequenced, variant called and filtered for quality...
August 4, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28779001/mutations-in-myo1h-cause-a-recessive-form-of-central-hypoventilation-with-autonomic-dysfunction
#10
Malte Spielmann, Luis R Hernandez-Miranda, Isabella Ceccherini, Debra E Weese-Mayer, Bjørt K Kragesteen, Izabela Harabula, Peter Krawitz, Carmen Birchmeier, Norma Leonard, Stefan Mundlos
BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare life-threatening disorder of respiratory and autonomic regulation. It is classically caused by dominant mutations in the transcription factor PHOX2B. The objective of the present study was to identify the molecular cause of a recessive form of central hypoventilation with autonomic dysfunction. METHODS: Here, we used homozygosity mapping and whole-genome sequencing in a consanguineous family with CCHS in combination with functional analyses in CRISPR/Cas9 engineered mice...
August 4, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28756411/heterogeneous-contribution-of-microdeletions-in-the-development-of-common-generalised-and-focal-epilepsies
#11
Eduardo Pérez-Palma, Ingo Helbig, Karl Martin Klein, Verneri Anttila, Heiko Horn, Eva Maria Reinthaler, Padhraig Gormley, Andrea Ganna, Andrea Byrnes, Katharina Pernhorst, Mohammad R Toliat, Elmo Saarentaus, Daniel P Howrigan, Per Hoffman, Juan Francisco Miquel, Giancarlo V De Ferrari, Peter Nürnberg, Holger Lerche, Fritz Zimprich, Bern A Neubauer, Albert J Becker, Felix Rosenow, Emilio Perucca, Federico Zara, Yvonne G Weber, Dennis Lal
BACKGROUND: Microdeletions are known to confer risk to epilepsy, particularly at genomic rearrangement 'hotspot' loci. However, microdeletion burden not overlapping these regions or within different epilepsy subtypes has not been ascertained. OBJECTIVE: To decipher the role of microdeletions outside hotspots loci and risk assessment by epilepsy subtype. METHODS: We assessed the burden, frequency and genomic content of rare, large microdeletions found in a previously published cohort of 1366 patients with genetic generalised epilepsy (GGE) in addition to two sets of additional unpublished genome-wide microdeletions found in 281 patients with rolandic epilepsy (RE) and 807 patients with adult focal epilepsy (AFE), totalling 2454 cases...
July 29, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28756410/reduction-of-podocyte-globotriaosylceramide-content-in-adult-male-patients-with-fabry-disease-with-amenable-gla-mutations-following-6-months-of-migalastat-treatment
#12
Michael Mauer, Alexey Sokolovskiy, Jay A Barth, Jeffrey P Castelli, Hadis N Williams, Elfrida R Benjamin, Behzad Najafian
OBJECTIVE: Deficiency of α-galactosidase A (αGal-A) in Fabry disease leads to the accumulation mainly of globotriaosylceramide (GL3) in multiple renal cell types. Glomerular podocytes are relatively resistant to clearance of GL3 inclusions by enzyme replacement therapy (ERT). Migalastat, an orally bioavailable small molecule capable of chaperoning misfolded αGal-A to lysosomes, is approved in the European Union for the long-term treatment of patients with Fabry disease and amenable GLA (α-galactosidase A enzyme) mutations...
July 29, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28754700/segregation-of-mitochondrial-dna-mutations-in-the-human-placenta-implication-for-prenatal-diagnosis-of-mtdna-disorders
#13
Pauline Vachin, Elodie Adda-Herzog, Gihad Chalouhi, Caroline Elie, Marlène Rio, Sophie Rondeau, Nadine Gigarel, Fabienne Jabot Hanin, Sophie Monnot, Roxana Borghese, Joana Bengoa, Yves Ville, Agnes Rotig, Arnold Munnich, Jean-Paul Bonnefont, Julie Steffann
BACKGROUND: Mitochondrial DNA (mtDNA) disorders have a high clinical variability, mainly explained by variation of the mutant load across tissues. The high recurrence risk of these serious diseases commonly results in requests from at-risk couples for prenatal diagnosis (PND), based on determination of the mutant load on a chorionic villous sample (CVS). Such procedures are hampered by the lack of data regarding mtDNA segregation in the placenta.The objectives of this report were to determine whether mutant loads (1) are homogeneously distributed across the whole placentas, (2) correlate with those in amniocytes and cord blood cells and (3) correlate with the mtDNA copy number...
July 28, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28754699/a-germline-deletion-of-9p21-3-presenting-as-familial-melanoma-astrocytoma-and-breast-cancer-clinical-and-genetic-counselling-challenges
#14
LETTER
Jaime Vengoechea, Christine Tallo
No abstract text is available yet for this article.
July 28, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28735299/identification-of-the-first-dominant-mutation-of-lama5-gene-causing-a-complex-multisystem-syndrome-due-to-dysfunction-of-the-extracellular-matrix
#15
Simone Sampaolo, Filomena Napolitano, Alfonsina Tirozzi, Mafalda Giovanna Reccia, Luca Lombardi, Olimpia Farina, Adriano Barra, Ferdinando Cirillo, Mariarosa Anna Beatrice Melone, Fernando Gianfrancesco, Giuseppe Di Iorio, Teresa Esposito
BACKGROUND: The laminin alpha 5 gene (LAMA5) plays a master role in the maintenance and function of the extracellular matrix (ECM) in mammalian tissues, which is critical in developmental patterning, stem cell niches, cancer and genetic diseases. Its mutations have never been reported in human disease so far. The aim of this study was to associate the first mutation in LAMA5 gene to a novel multisystem syndrome. METHODS: A detailed characterisation of a three-generation family, including clinical, biochemical, instrumental and morphological analysis, together with genetics and expression (WES and RNAseq) studies, was performed...
July 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28735298/foxp1-related-intellectual-disability-syndrome-a-recognisable-entity
#16
Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, Nicola Ragge, Sixto García-Miñaúr, Pablo Lapunzina, Maria Palomares Bralo, Maria Ángeles Mori, Stéphanie Moortgat, Valérie Benoit, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy Jl de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K Vaux, Nataliya DiDonato, Andrea K Hanson-Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael J Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalova, Marketa Havlovicova, Miroslava Hancarova, Magdalena Budisteanu, Annelies Dheedene, Björn Menten, Patrick A Dion, Damien Lederer, Bert Callewaert
BACKGROUND: Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far. METHODS: We correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOXP1 defects. We evaluated FOXP1 activity by an in vitro luciferase model and assessed protein stability in vitro by western blotting...
July 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28735297/regulating-the-advertising-of-genetic-tests-in-europe-a-balancing-act
#17
REVIEW
Louiza Kalokairinou, Pascal Borry, Heidi Carmen Howard
Direct-to-consumer (DTC) genetic tests (GT) have provoked criticism over their potential adverse impact on public health. The European Parliament called for a ban on DTC advertising of GT during the debate for the adoption of a European Regulation on in vitro diagnostic medical devices. This proposal, however, was not ultimately retained in the final text. Instead, the regulation includes an article prohibiting misleading claims for this kind of advertising. These two different approaches raise questions about the optimal degree of regulation...
July 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28705883/assessing-genome-wide-copy-number-variation-in-the-han-chinese-population
#18
Jianqi Lu, Haiyi Lou, Ruiqing Fu, Dongsheng Lu, Feng Zhang, Zhendong Wu, Xi Zhang, Changhua Li, Baijun Fang, Fangfang Pu, Jingning Wei, Qian Wei, Chao Zhang, Xiaoji Wang, Yan Lu, Shi Yan, Yajun Yang, Li Jin, Shuhua Xu
BACKGROUND: Copy number variation (CNV) is a valuable source of genetic diversity in the human genome and a well-recognised cause of various genetic diseases. However, CNVs have been considerably under-represented in population-based studies, particularly the Han Chinese which is the largest ethnic group in the world. OBJECTIVES: To build a representative CNV map for the Han Chinese population. METHODS: We conducted a genome-wide CNV study involving 451 male Han Chinese samples from 11 geographical regions encompassing 28 dialect groups, representing a less-biased panel compared with the currently available data...
July 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28689190/intermediate-c9orf72-alleles-in-neurological-disorders-does-size-really-matter
#19
REVIEW
Adeline S L Ng, Eng-King Tan
C9orf72 repeat expansions is a major cause of familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. Sizes of <20 hexanucleotide repeats are observed in controls, while up to thousands associate with disease. Intermediate C9orf72 repeat lengths, however, remain uncertain. We systematically reviewed the role of intermediate C9orf72 alleles in C9orf72-related neurological disorders. We identified 49 studies with adequate available data on normal or intermediate C9orf72 repeat length, involving subjects with FTD, ALS, Parkinson's disease (PD), atypical parkinsonism, Alzheimer's disease (AD) and other aetiologies...
July 8, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28668821/preimplantation-genetic-diagnosis-for-mitochondrial-dna-mutations-analysis-of-one-blastomere-suffices
#20
Suzanne C E H Sallevelt, Joseph C F M Dreesen, Edith Coonen, Aimee D C Paulussen, Debby M E I Hellebrekers, Christine E M de Die-Smulders, Hubert J M Smeets, Patrick Lindsey
BACKGROUND: Preimplantation genetic diagnosis (PGD) is a reproductive strategy for mitochondrial DNA (mtDNA) mutation carriers, strongly reducing their risk of affected offspring. Embryos either without the mutation or with mutation load below the phenotypic threshold are transferred to the uterus. Because of incidental heteroplasmy deviations in single blastomere and the relatively limited data available, we so far preferred relying on two blastomeres rather than one. Considering the negative effect of a two-blastomere biopsy protocol compared with a single-blastomere biopsy protocol on live birth delivery rate, we re-evaluated the error rate in our current dataset...
July 1, 2017: Journal of Medical Genetics
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