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Clinical Genetics

Nika V Petrova, Andrey V Marakhonov, Tatiana A Vasilyeva, Natalya Y Kashirskaya, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Single nucleotide variants are represented as lines. The height of the line corresponds to the allele frequency. Gross chromosomal copy number variations are shown as arrows. Color corresponds to the mutation type. Complex alleles represented with a clip. Previously reported variants are located above the schematic gene representation. Their names are presented in Table 1 in main text. Novel variants are depicted beneath the schematic gene representation.
December 12, 2018: Clinical Genetics
Magdalena Krygier, Mariusz Kwarciany, Krystyna Wasilewska, Victor Murcia Pienkowski, Natalia Krawczyńska, Daniel Zielonka, Joanna Kosińska, Piotr Stawinski, Monika Rudzińska-Bar, Magdalena Boczarska-Jedynak, Bartosz Karaszewski, Janusz Limon, Jarosław Sławek, Rafał Płoski, Małgorzata Rydzanicz
Inherited ataxias are a group of highly heterogeneous, complex neurological disorders representing a significant diagnostic challenge in clinical practice. We performed next generation sequencing analysis in 10 index cases with unexplained progressive cerebellar ataxia of suspected autosomal recessive inheritance. A definite molecular diagnosis was obtained in 5/10 families and included the following diseases: autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), POLR3B-related hypomyelinating leukodystrophy, primary coenzyme Q10 deficiency type 4, Niemann-Pick disease type C1 and SYNE1-related ataxia...
December 11, 2018: Clinical Genetics
Yanfen Zhang, Ruocen Bai, Chong Liu, Chunyan Ma, Xin Chen, Jun Yang, Dandan Sun
Diabetes mellitus (DM) has become the third major chronic non-communicable disease affecting global public health, following cancer and cardiovascular and cerebrovascular diseases. Although previous studies have found a correlation between microRNA (miRNA) and the development of DM, thus far, most reviews have focused on the studies describing the changes in miRNA expression profiles and the mechanisms by which miRNAs-induce DM. However, reviews summarizing the effect of miRNA single nucleotide polymorphisms (SNP) on the developmental stages of DM and its complications are still needed...
December 7, 2018: Clinical Genetics
Ann-Charlotte Thuresson, Cecilia Soussi Zander, Jin J Zhao, Jonatan Halvardson, Khurram Maqbool, Else Månsson, Eric Stenninger, Ulrika Holmlund, Ylva Öhrner, Lars Feuk
No abstract text is available yet for this article.
December 7, 2018: Clinical Genetics
Wenjin Yan, Zheng Hao, Shuyan Tang, Jin Dai, Liming Zheng, Pengjun Yu, Wenqiang Yan, Xiao Han, Xingquan Xu, Dongquan Shi, Shiro Ikegawa, Huajian Teng, Qing Jiang
Developmental dysplasia of the hip (DDH) is one of the most common congenital malformations and covers a spectrum of hip disorders from mild dysplasia to irreducible dislocation. The pathological mechanisms of DDH are poorly understood, which hampers the development of diagnostic tools and treatments. To gain insight into its disease mechanism, we explored the potential biological processes that underlie DDH by integrating pathway analysis tools and performing a genome-wide association study (GWAS). A total of 406 DDH-associated genes (P< 0...
December 3, 2018: Clinical Genetics
Jung-Wook Kim, Hong Zhang, Figen Seymen, Mine Koruyucu, Yuanyuan Hu, Jenny Kang, Youn Jung Kim, Atsushi Ikeda, Yelda Kasimoglu, Merve Bayram, Chuhua Zhang, Kazuhiko Kawasaki, John D Bartlett, Thomas L Saunders, James P Simmer, Jan C-C Hu
Amelogenesis imperfecta (AI) is a collection of isolated (non-syndromic) inherited diseases affecting dental enamel formation or a clinical phenotype in syndromic conditions. We characterized three consanguineous AI families with generalized irregular hypoplastic enamel with rapid attrition that perfectly segregated with homozygous defects in a novel gene: RELT that is a member of the tumor necrosis factor receptor superfamily (TNFRSF). RNAscope in situ hybridization of wild-type mouse molars and incisors demonstrated specific Relt mRNA expression by secretory stage ameloblasts and by odontoblasts...
December 3, 2018: Clinical Genetics
Ya-Xin Zhang, Hai-Yu Li, Wen-Bin He, Chaofeng Tu, Juan Du, Wen Li, Guang-Xiu Lu, Ge Lin, Yongjia Yang, Yue-Qiu Tan
No abstract text is available yet for this article.
November 29, 2018: Clinical Genetics
Alexandra Filatova, Valeria Freire, Ekaterina Lozier, Fedor Konovalov, Ludmila Bessonova, Elena Iudina, Valentina Gnetetskaya, Ilya Kanivets, Sergey Korostelev, Mikhail Skoblov
No abstract text is available yet for this article.
November 28, 2018: Clinical Genetics
Ping Yuan, Zuyong He, Silong Sun, Yu Li, Wenjun Wang, Xinyu Liang, Xuefeng Xie, Yiqi Jiang, Dongzi Yang
Premature ovarian insufficiency (POI) is a group of heterogeneous disorders characterized by decreased ovarian reserve and increased follicle stimulating hormone (FSH) levels. It is rarely associated with short stature. FIGLA mutations with POI are identified with regards to heterozygosity; till date, only one affected family has been identified with homozygous mutations in FIGLA but without functional evaluation. Here, we described two POI patients from a consanguineous family from China. An 18-year-old girl and her sister presented with primary amenorrhea and increased FSH and luteinizing hormone levels, but the sister also presented with short stature and bone age delay...
November 25, 2018: Clinical Genetics
Pascale Richard, Flavie Ader, Maguelonne Roux, Erwan Donal, Jean-Christophe Eicher, Nadia Aoutil, Olivier Huttin, Christine Selton-Suty, Damien Coisne, Guillaume Jondeau, Thibaud Damy, Nicolas Mansencal, Anne-Claire Casalta, Nicolas Michel, Julie Haentjens, Laurence Faivre, Cecile Lavoute, Karine Nguyen, David-Alexandre Tregouët, Gilbert Habib, Philippe Charron
Left ventricular non-compaction (LVNC) is a cardiomyopathy that may be of genetic origin, however few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective cohort of 95 unrelated adult patients through the molecular investigation of 107 genes involved in cardiomyopathies and arrhythmias. Fifty-two pathogenic or probably pathogenic variants were identified in 40 patients (42%) including 31 patients (32...
November 24, 2018: Clinical Genetics
Leda Paganini, Loubna Abdel Hadi, Massimiliano Chetta, Davide Rovina, Laura Fontana, Patrizia Colapietro, Eleonora Bonaparte, Lidia Pezzani, Paola Marchisio, Tabano Silvia Maria, Jole Costanza, Sirchia Silvia Maria, Laura Riboni, Donatella Milani, Monica Miozzo
X-Linked Intellectual Disability (XLID) refers to a clinically and genetically heterogeneous neurodevelopmental disorder, in which males are more heavily affected than females. Among the syndromic forms of XLID, identified by additional clinical signs as part of the disease spectrum, the association between XLID and severe myopia has been poorly characterized. We used Whole Exome Sequencing (WES) to study two Italian male twins presenting impaired intellectual function and adaptive behavior, in association with severe myopia and mild facial dysmorphisms...
November 24, 2018: Clinical Genetics
Leman Damla Kotan, Emregul Isik, Ihsan Turan, Eda Mengen, Gamze Akkus, Mehmet Tastan, Fatih Gurbuz, Bilgin Yuksel, A Kemal Topaloglu
Idiopathic Hypogonadotropic Hypogonadism (IHH) can be divided into two major forms, normosmic IHH and Kallmann syndrome (KS). Genetic mutations are responsible for the majority of IHH. PLXNA1 has recently been implicated in the GnRH neuron migration and the etiology of KS. We aimed to investigate the prevalence and associated phenotypes of PLXNA1 variants in a large cohort of IHH patients. We screened the whole exome data of 215 IHH patients in a single center for causative PLXNA1 variants. Our studies revealed eight novel (p...
November 22, 2018: Clinical Genetics
Y Peng, P Wang, Z Chen, H Jiang
No abstract text is available yet for this article.
November 20, 2018: Clinical Genetics
Zhuqing Shi, Hongjie Yu, Yishuo Wu, Madison Ford, Chelsea Perschon, Chihsiung Wang, S Lilly Zheng, Jianfeng Xu
Single nucleotide polymorphism (SNP)-based genetic risk score (GRS) and APOE genotype are both important in risk prediction of Alzheimer's disease (AD); however, the interaction between GRS and APOE has not been extensively investigated. Our objective was to determine whether GRS modifies the APOE effect on AD risk and age at onset (AAO). The study included 774 AD cases and 767 controls of European descent. Population standardized GRS was calculated based on 17 previously implicated AD risk-associated SNPs...
November 20, 2018: Clinical Genetics
María-Isabel Tejada, Xabier Elcoroaristizabal, Nekane Ibarluzea, María-Pilar Botella, Ana-Belén de la Hoz, Intzane Ocio
No abstract text is available yet for this article.
November 20, 2018: Clinical Genetics
Guillaume Velasco, Claire Francastel
Alterations in epigenetic landscapes are hallmarks of many complex human diseases, yet, it is often challenging to assess the underlying mechanisms and causal link with clinical manifestations. In this regard, monogenic diseases that affect actors of the epigenetic machinery are of considerable interest to learn more about the etiology of complex traits. Spectacular breakthroughs in medical genetics are largely the result of advances in genome-wide approaches to identify genomic and epigenomic alterations in patients...
November 19, 2018: Clinical Genetics
Andrea Dardis, Annalisa Pianta, Stefania Zampieri, Irene Zanin, Marta Bertoli, Monica Cazzagon, Elisa Bregant, Giuseppe Damante, Bruno Bembi, Giovanni Ciana
No abstract text is available yet for this article.
November 18, 2018: Clinical Genetics
Nina Beri, Linda J Patrick-Miller, Brian L Egleston, Michael J Hall, Susan M Domchek, Mary B Daly, Pamela Ganschow, Generosa Grana, Olufunmilayo I Olopade, Dominique Fetzer, Amanda Brandt, Rachelle Chambers, Dana F Clark, Andrea Forman, Rikki Gaber, Cassandra Gulden, Janice Horte, Jessica Long, Terra Lucas, Shreshtha Madaan, Kristin Mattie, Danielle McKenna, Susan Montgomery, Sarah Nielsen, Jacquelyn Powers, Kim Rainey, Christina Rybak, Michelle Savage, Christina Seelaus, Jessica Stoll, Jill E Stopfer, Xinxin Shirley Yao, Angela R Bradbury
Telephone disclosure of cancer genetic test results is non-inferior to in-person disclosure. However, how patients who prefer in-person communication of results differ from those who agree to telephone disclosure is unclear but important when considering delivery models for genetic medicine. Patients undergoing cancer genetic testing were recruited to a multi-center, randomized, non-inferiority trial (NCT01736345) comparing telephone to in-person disclosure of genetic test results. We evaluated preferences for in-person disclosure, factors associated with this preference and outcomes compared to those who agreed to randomization...
November 12, 2018: Clinical Genetics
Bitten Schönewolf-Greulich, Anne-Marie Bisgaard, Morten Dunø, Cathrine Jespersgaard, Mette Rokkjaer, Lars K Hansen, Eirini Tsoutsou, Christalena Sofokleous, Meral Topcu, Simran Kaur, Nicole J Van Bergen, Karen Brøndum-Nielsen, Martin J Larsen, Kristina P Sørensen, John Christodoulou, Christina R Fagerberg, Zeynep Tümer
Rett syndrome is rarely suspected in males because of the X-linked dominant inheritance. In the literature, only six male patients have been reported with methyl-CpG-binding protein 2 (MECP2) mosaicism. Next-generation sequencing (NGS) methods have enabled better detection of somatic mosaicism compared to conventional Sanger sequencing; however, mosaics can still be difficult to detect. We present clinical and molecular findings in two males mosaic for a pathogenic MECP2 variant. Both have been reexamined using deep sequencing of DNA isolated from four different cell tissues (blood, muscle, fibroblasts and oral mucosa)...
November 11, 2018: Clinical Genetics
Daniela Hombach, Jana Marie Schwarz, Ellen Knierim, Markus Schuelke, Dominik Seelow, Sebastian Köhler
In clinical genetics, the Human Phenotype Ontology as well as disease ontologies are often used for deep phenotyping of patients and coding of clinical diagnoses. However, assigning ontology classes to patient descriptions is often disconnected from writing patient reports or manuscripts in word processing software. This additional workload and the requirement to install dedicated software may discourage usage of ontologies for parts of the target audience. Here we present Phenotero, a freely available and simple solution to annotate patient phenotypes and diseases at the time of writing clinical reports or manuscripts...
November 11, 2018: Clinical Genetics
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