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Journal of Medical Genetics

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https://www.readbyqxmd.com/read/30301738/10q23-31-microduplication-encompassing-pten-decreases-mtor-signalling-activity-and-is-associated-with-autosomal-dominant-primary-microcephaly
#1
Danyllo Oliveira, Gabriela Ferraz Leal, Andréa L Sertié, Luiz Carlos Caires, Ernesto Goulart, Camila Manso Musso, João Ricardo Mendes de Oliveira, Ana Cristina Victorino Krepischi, Angela Maria Vianna-Morgante, Mayana Zatz
BACKGROUND: Hereditary primary microcephaly (MCPH) is mainly characterised by decreased occipitofrontal circumference and variable degree of intellectual disability. MCPH with a dominant pattern of inheritance is a rare condition, so far causally linked to pathogenic variants in the ALFY , DPP6 , KIF11 and DYRK1A genes. OBJECTIVE: This study aimed at identifying the causative variant of the autosomal dominant form of MCPH in a Brazilian family with three affected members...
October 9, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30291219/efficacy-of-novel-immunotherapy-regimens-in-patients-with-metastatic-melanoma-with-germline-cdkn2a-mutations
#2
Hildur Helgadottir, Paola Ghiorzo, Remco van Doorn, Susana Puig, Max Levin, Richard Kefford, Martin Lauss, Paola Queirolo, Lorenza Pastorino, Ellen Kapiteijn, Miriam Potrony, Cristina Carrera, Håkan Olsson, Veronica Höiom, Göran Jönsson
BACKGROUND: Inherited CDKN2A mutation is a strong risk factor for cutaneous melanoma. Moreover, carriers have been found to have poor melanoma-specific survival. In this study, responses to novel immunotherapy agents in CDKN2A mutation carriers with metastatic melanoma were evaluated. METHODS: CDKN2A mutation carriers that have developed metastatic melanoma and undergone immunotherapy treatments were identified among carriers enrolled in follow-up studies for familial melanoma...
October 5, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30287599/investigation-of-clinically-relevant-germline-variants-detected-by-next-generation-sequencing-in-patients-with-childhood-cancer-a-review-of-the-literature
#3
Dianne E Sylvester, Yuyan Chen, Robyn V Jamieson, Luciano Dalla-Pozza, Jennifer A Byrne
Genetic predisposition is an important underlying cause of childhood cancer, although the proportion of patients with childhood cancer carrying predisposing pathogenic germline variants is uncertain. This review considers the pathogenic or likely pathogenic germline variants reported by six studies that used next-generation sequencing to investigate genetic predisposition in selected cohorts of patients with childhood cancer and used incompletely overlapping gene sets for analysis and interpretation. These six studies reported that 8...
October 4, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30287598/correction-a-common-slc26a4-linked-haplotype-underlying-non-syndromic-hearing-loss-with-enlargement-of-the-vestibular-aqueduct
#4
(no author information available yet)
No abstract text is available yet for this article.
October 4, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30287597/progression-from-islet-autoimmunity-to-clinical-type-1-diabetes-is-influenced-by-genetic-factors-results-from-the-prospective-teddy-study
#5
Andreas Beyerlein, Ezio Bonifacio, Kendra Vehik, Markus Hippich, Christiane Winkler, Brigitte I Frohnert, Andrea K Steck, William A Hagopian, Jeffrey P Krischer, Åke Lernmark, Marian J Rewers, Jin-Xiong She, Jorma Toppari, Beena Akolkar, Stephen S Rich, Anette-G Ziegler
BACKGROUND: Progression time from islet autoimmunity to clinical type 1 diabetes is highly variable and the extent that genetic factors contribute is unknown. METHODS: In 341 islet autoantibody-positive children with the human leucocyte antigen (HLA) DR3/DR4-DQ8 or the HLA DR4-DQ8/DR4-DQ8 genotype from the prospective TEDDY (The Environmental Determinants of Diabetes in the Young) study, we investigated whether a genetic risk score that had previously been shown to predict islet autoimmunity is also associated with disease progression...
October 4, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30287596/haemophagocytic-lymphohistiocytosis-complicating-pembrolizumab-treatment-for-metastatic-breast-cancer-in-a-patient-with-the-prf1a91v-gene-polymorphism
#6
Hanny Al-Samkari, Gregory D Snyder, Sarah Nikiforow, Sara M Tolaney, Rachel A Freedman, Julie-Aurore Losman
BACKGROUND: Immune checkpoint inhibitor therapy is a modern breakthrough in medical oncology, but it can precipitate inflammatory and autoimmune adverse effects. Among the most serious of these toxicities is haemophagocytic lymphohistiocytosis (HLH), a life-threatening disorder of unbridled immune activation that results in injury to multiple organ systems. OBJECTIVE: Description of a case of pembrolizumab-associated HLH in a patient with a proposed underlying genetic risk factor for its occurrence...
October 4, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30287595/mosaicism-and-incomplete-penetrance-of-pcdh19-mutations
#7
Aijie Liu, Xiaoxu Yang, Xiaoling Yang, Qixi Wu, Jing Zhang, Dan Sun, Zhixian Yang, Yuwu Jiang, Xiru Wu, Liping Wei, Yuehua Zhang
BACKGROUND: Mutations in the PCDH19 gene have mainly been reported in female patients with epilepsy. To date, PCDH19 mutations have been reported in hundreds of females and only in 10 mosaic male epileptic patients with mosaicism. OBJECTIVE: We aimed to investigate the occurrence of mosaic PCDH19 mutations in 42 families comprising at least one patient with PCDH19 -related epilepsy. METHODS: Two male patients with mosaic PCDH19 variants were identified using targeted next-generation sequencing...
October 4, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30287594/peho-syndrome-the-endpoint-of-different-genetic-epilepsies
#8
Manali Chitre, Michael S Nahorski, Kaitlin Stouffer, Bryony Dunning-Davies, Hamish Houston, Emma L Wakeling, Angela F Brady, Sameer M Zuberi, Mohnish Suri, Alasdair P J Parker, C Geoffrey Woods
BACKGROUND: Progressive encephalopathy, hypsarrhythmia and optic atrophy (PEHO) has been described as a clinically distinct syndrome. It has been postulated that it is an autosomal recessive condition. However, the aetiology is poorly understood, and the genetic basis of the condition has not been fully elucidated. Our objective was to discover if PEHO syndrome is a single gene disorder. METHOD: Children with PEHO and PEHO-like syndrome were recruited. Clinical, neurological and dysmorphic features were recorded; EEG reports and MRI scans were reviewed...
October 4, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30287593/16p13-11-microduplication-in-45-new-patients-refined-clinical-significance-and-genotype-phenotype-correlations
#9
Laïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, Joris Andrieux, Martine Doco Fenzy, Caroline Vincent-Delorme, Patrick Callier, Sandra Chantot-Bastaraud, Alexandra Afenjar, Odile Boute-Benejean, Marie Pierre Cordier, Laurence Faivre, Christine Francannet, Marion Gerard, Alice Goldenberg, Alice Masurel-Paulet, Anne-Laure Mosca-Boidron, Nathalie Marle, Anne Moncla, Nathalie Le Meur, Michèle Mathieu-Dramard, Ghislaine Plessis, Gaetan Lesca, Massimiliano Rossi, Patrick Edery, Andrée Delahaye-Duriez, Loïc De Pontual, Anne Claude Tabet, Aziza Lebbar, Lesley Suiro, Christine Ioos, Abdelhafid Natiq, Siham Chafai Elalaoui, Chantal Missirian, Aline Receveur, Caroline François-Fiquet, Pascal Garnier, Catherine Yardin, Cécile Laroche, Philippe Vago, Damien Sanlaville, Jean Michel Dupont, Brigitte Benzacken, Eva Pipiras
BACKGROUND: The clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported patients were not or poorly characterised. The absence of consensual recommendations leads to interpretation discrepancy and makes genetic counselling challenging. This study aims to decipher the genotype-phenotype correlations to improve genetic counselling and patients' medical care...
October 4, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30266756/common-variants-at-5q33-1-predispose-to-migraine-in-african-american-children
#10
Xiao Chang, Renata Pellegrino, James Garifallou, Michael March, James Snyder, Frank Mentch, Jin Li, Cuiping Hou, Yichuan Liu, Patrick M A Sleiman, Hakon Hakonarson
BACKGROUND: Genome-wide association studies (GWASs) have identified multiple susceptibility loci for migraine in European adults. However, no large-scale genetic studies have been performed in children or African Americans with migraine. METHODS: We conducted a GWAS of 380 African-American children and 2129 ancestry-matched controls to identify variants associated with migraine. We then attempted to replicate our primary analysis in an independent cohort of 233 African-American patients and 4038 non-migraine control subjects...
September 28, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30254140/correction-genetic-variants-in-chi3l1-influencing-ykl-40-levels-resequencing-900-individuals-and-genotyping-9000-individuals-from-the-general-population
#11
(no author information available yet)
No abstract text is available yet for this article.
September 25, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30244195/genome-sequencing-reveals-a-deep-intronic-splicing-acvrl1-mutation-hotspot-in-hereditary-haemorrhagic-telangiectasia
#12
Whitney L Wooderchak-Donahue, Jamie McDonald, Andrew Farrell, Gulsen Akay, Matt Velinder, Peter Johnson, Chad VanSant-Webb, Rebecca Margraf, Eric Briggs, Kevin J Whitehead, Jennifer Thomson, Angela E Lin, Reed E Pyeritz, Gabor Marth, Pinar Bayrak-Toydemir
INTRODUCTION: Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous disorder caused by mutations in the genes ENG , ACVRL1 , and SMAD4. Yet the genetic cause remains unknown for some families even after exhaustive exome analysis. We hypothesised that non-coding regions of the known HHT genes may harbour variants that disrupt splicing in these cases. METHODS: DNA from 35 individuals with clinical findings of HHT and 2 healthy controls from 13 families underwent whole genome sequencing...
September 22, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30242101/leveraging-the-power-of-new-molecular-technologies-in-the-clinical-setting-requires-unprecedented-awareness-of-limitations-and-drawbacks-experience-of-one-diagnostic-laboratory
#13
Landry Nfonsam, Shelley Ordorica, Mahdi Ghani, Ryan Potter, Audrey Schaffer, Hussein Daoud, Nasim Vasli, Caitlin Chisholm, Elizabeth Sinclair-Bourque, Jean McGowan-Jordan, Amanda C Smith, Olga Jarinova, Lucas Bronicki
BACKGROUND: Advances in molecular technologies and in-silico variant prediction tools offer wide-ranging opportunities in diagnostic settings, yet they also present with significant limitations. OBJECTIVE: Here, we contextualise the limitations of next-generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA) and in-silico prediction tools routinely used by diagnostic laboratories by reviewing specific experiences from our diagnostic laboratory...
September 21, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30242100/molecular-and-clinical-analyses-of-two-patients-with-upd-16-mat-detected-by-screening-94-patients-with-silver-russell-syndrome-phenotype-of-unknown-aetiology
#14
Takanobu Inoue, Hideaki Yagasaki, Junko Nishioka, Akie Nakamura, Keiko Matsubara, Satoshi Narumi, Kazuhiko Nakabayashi, Kazuki Yamazawa, Tomoko Fuke, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami
BACKGROUND: Recently, a patient with maternal uniparental disomy of chromosome 16 (UPD(16)mat) presenting with Silver-Russell syndrome (SRS) phenotype was reported. SRS is characterised by growth failure and dysmorphic features. OBJECTIVE: To clarify the prevalence of UPD(16)mat in aetiology-unknown patients with SRS phenotype and phenotypic differences between UPD(16)mat and SRS. METHODS: We studied 94 patients with SRS phenotype of unknown aetiology...
September 21, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30201732/bayesian-approach-to-determining-penetrance-of-pathogenic-sdh-variants
#15
Diana E Benn, Ying Zhu, Katrina A Andrews, Mathilda Wilding, Emma L Duncan, Trisha Dwight, Richard W Tothill, John Burgess, Ashley Crook, Anthony J Gill, Rodney J Hicks, Edward Kim, Catherine Luxford, Helen Marfan, Anne Louise Richardson, Bruce Robinson, Arran Schlosberg, Rachel Susman, Lyndal Tacon, Alison Trainer, Katherine Tucker, Eamonn R Maher, Michael Field, Roderick J Clifton-Bligh
BACKGROUND: Until recently, determining penetrance required large observational cohort studies. Data from the Exome Aggregate Consortium (ExAC) allows a Bayesian approach to calculate penetrance, in that population frequencies of pathogenic germline variants should be inversely proportional to their penetrance for disease. We tested this hypothesis using data from two cohorts for succinate dehydrogenase subunits A, B and C ( SDHA-C ) genetic variants associated with hereditary pheochromocytoma/paraganglioma (PC/PGL)...
September 10, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30194086/long-read-sequencing-identified-intronic-repeat-expansions-in-samd12-from-chinese-pedigrees-affected-with-familial-cortical-myoclonic-tremor-with-epilepsy
#16
Sheng Zeng, Mei-Yun Zhang, Xue-Jing Wang, Zheng-Mao Hu, Jin-Chen Li, Nan Li, Jun-Ling Wang, Fan Liang, Qi Yang, Qian Liu, Li Fang, Jun-Wei Hao, Fu-Dong Shi, Xue-Bing Ding, Jun-Fang Teng, Xiao-Meng Yin, Hong Jiang, Wei-Ping Liao, Jing-Yu Liu, Kai Wang, Kun Xia, Bei-Sha Tang
BACKGROUND: The locus for familial cortical myoclonic tremor with epilepsy (FCMTE) has long been mapped to 8q24 in linkage studies, but the causative mutations remain unclear. Recently, expansions of intronic TTTCA and TTTTA repeat motifs within SAMD12 were found to be involved in the pathogenesis of FCMTE in Japanese pedigrees. We aim to identify the causative mutations of FCMTE in Chinese pedigrees. METHODS: We performed genetic linkage analysis by microsatellite markers in a five-generation Chinese pedigree with 55 members...
September 7, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30177556/significance-of-non-coding-circular-rnas-and-micro-rnas-in-the-pathogenesis-of-cardiovascular-diseases
#17
Guoan Zhao
Heart failure, coronary artery disease and myocardial infarction are the most prominent cardiovascular diseases contributing significantly to death worldwide. In the majority of situations, except for surgical interventions and transplantation, there are no reliable therapeutic approaches available to address these health problem. Despite several advances that led to the development of biomarkers and therapies based on the renin-angiotensin system, adrenergic pathways, etc, more definitive and consistent biomarkers and specific target based molecular therapies are still being sought...
September 3, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30166351/multitrait-genome-association-analysis-identifies-new-susceptibility-genes-for-human-anthropometric-variation-in-the-gcat-cohort
#18
Iván Galván-Femenía, Mireia Obón-Santacana, David Piñeyro, Marta Guindo-Martinez, Xavier Duran, Anna Carreras, Raquel Pluvinet, Juan Velasco, Laia Ramos, Susanna Aussó, Lluis Puig, Manuel Perucho, David Torrents, Victor Moreno, Lauro Sumoy, Rafael de Cid
BACKGROUND: Heritability estimates have revealed an important contribution of SNP variants for most common traits; however, SNP analysis by single-trait genome-wide association studies (GWAS) has failed to uncover their impact. In this study, we applied a multitrait GWAS approach to discover additional factor of the missing heritability of human anthropometric variation. METHODS: We analysed 205 traits, including diseases identified at baseline in the GCAT cohort (Genomes For Life- Cohort study of the Genomes of Catalonia) (n=4988), a Mediterranean adult population-based cohort study from the south of Europe...
August 30, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30120217/homozygosity-for-the-c-428delg-variant-in-kiaa0586-in-a-healthy-individual-implications-for-molecular-testing-in-patients-with-joubert-syndrome
#19
Silke Pauli, Janine Altmüller, Simone Schröder, Andreas Ohlenbusch, Steffi Dreha-Kulaczewski, Carsten Bergmann, Peter Nürnberg, Holger Thiele, Yun Li, Bernd Wollnik, Knut Brockmann
BACKGROUND: Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with marked phenotypic variability and genetic heterogeneity. Homozygous or compound heterozygous mutations in the KIAA0586 gene on chromosome 14q23 are known to be associated with JBTS-23. The frameshift variant c.428delG is the most frequent KIAA0586 variant reported in JBTS-23; yet, homozygosity of this variant was observed in two patients with JBTS-23. However, homozygosity of the c.428delG variant was recently reported as well in one healthy individual...
August 17, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30120216/bi-allelic-mutations-in-trappc2l-result-in-a-neurodevelopmental-disorder-and-have-an-impact-on-rab11-in-fibroblasts
#20
Miroslav P Milev, Claudio Graziano, Daniela Karall, Willemijn F E Kuper, Noraldin Al-Deri, Duccio Maria Cordelli, Tobias B Haack, Katharina Danhauser, Arcangela Iuso, Flavia Palombo, Tommaso Pippucci, Holger Prokisch, Djenann Saint-Dic, Marco Seri, Daniela Stanga, Giovanna Cenacchi, Koen L I van Gassen, Johannes Zschocke, Christine Fauth, Johannes A Mayr, Michael Sacher, Peter M van Hasselt
BACKGROUND: The combination of febrile illness-induced encephalopathy and rhabdomyolysis has thus far only been described in disorders that affect cellular energy status. In the absence of specific metabolic abnormalities, diagnosis can be challenging. OBJECTIVE: The objective of this study was to identify and characterise pathogenic variants in two individuals from unrelated families, both of whom presented clinically with a similar phenotype that included neurodevelopmental delay, febrile illness-induced encephalopathy and episodes of rhabdomyolysis, followed by developmental arrest, epilepsy and tetraplegia...
August 17, 2018: Journal of Medical Genetics
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