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Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, Kemal Azibi, Jérôme Fagart, Anne Fèvre, Anne Laure Todeschini, Reiner A Veitia, Chérif Beldjord, Brigitte Delemer, Catherine Dodé, Jacques Young, Nadine Binart
CONTEXT: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and infertility. POI affects 1% of women before age 40, and several genetic causes have been reported. To date, POI has been considered a monogenic disorder. OBJECTIVE: The aim of this study was to identify novel gene variations and to investigate if individuals with POI harbor mutation in multiple loci. PATIENTS AND METHODS: One hundred well-phenotyped POI patients were systematically screened for variants in 19 known POI loci (and potential candidate genes) using next-generation sequencing...
September 7, 2016: Journal of Clinical Endocrinology and Metabolism
Mohiedean Ghofrani, Chengquan Zhao, Diane D Davey, Fang Fan, Mujtaba Husain, Alice Laser, Idris T Ocal, Rulong Z Shen, Kelly Goodrich, Rhona J Souers, Barbara A Crothers
Context .- Since 2008, the College of American Pathologists has provided the human papillomavirus for cytology laboratories (CHPV) proficiency testing program to help laboratories meet the requirements of the Clinical Laboratory Improvement Amendments of 1988. Objectives .- To provide an update on trends in proficiency testing performance in the College of American Pathologists CHPV program during the 4-year period from 2011 through 2014 and to compare those trends with the preceding first 3 years of the program...
August 24, 2016: Archives of Pathology & Laboratory Medicine
A K Nicholas, E G Serra, H Cangul, S Alyaarubi, I Ullah, E Schoenmakers, A Deeb, A M Habeb, M AlMaghamsi, C Peters, N Nathwani, Z Aycan, H Saglam, E Bober, M Dattani, S Shenoy, P G Murray, A Babiker, R Willemsen, A Thankamony, G Lyons, R Irwin, R Padidela, K Tharian, J H Davies, V Puthi, S-M Park, A F Massoud, J W Gregory, A Albanese, E Pease-Gevers, H Martin, K Brugger, E R Maher, K Chatterjee, C A Anderson, N Schoenmakers
CONTEXT: Lower thyroid-stimulating hormone (TSH) screening cut-offs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically-located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes, or the thyroid-stimulating hormone receptor (TSHR) underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken. OBJECTIVE: To evaluate the contribution and molecular spectrum of mutations in eight known causative genes (TG, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD and TSHR) in CH cases with GIS...
August 15, 2016: Journal of Clinical Endocrinology and Metabolism
Samuel D Quaynor, Maggie E Bosley, Christina G Duckworth, Kelsey R Porter, Soo-Hyun Kim, Hyung-Goo Kim, Lynn P Chorich, Megan E Sullivan, Jeong-Hyeon Choi, Richard S Cameron, Lawrence C Layman
The genetic basis is unknown for ∼60% of normosmic hypogonadotropic hypogonadism (nHH)/Kallmann syndrome (KS). DNAs from (17 male and 31 female) nHH/KS patients were analyzed by targeted next generation sequencing (NGS) of 261 genes involved in hypothalamic, pituitary, and/or olfactory pathways, or suggested by chromosome rearrangements. Selected variants were subjected to Sanger DNA sequencing, the gold standard. The frequency of Sanger-confirmed variants was determined using the ExAC database. Variants were classified as likely pathogenic (frameshift, nonsense, and splice site) or predicted pathogenic (nonsynonymous missense)...
December 5, 2016: Molecular and Cellular Endocrinology
Jack Cuzick, Amar S Ahmad, Janet Austin, Louise Cadman, Linda Ho, George Terry, Michelle Kleeman, Lesley Ashdown-Barr, Deirdre Lyons, Mark Stoler, Anne Szarewski
BACKGROUND: Two transport media, PreservCyt and SurePath, are widely used for cervical cytology screening. There are concerns that they may perform differently for HPV testing. OBJECTIVES: A comparison of the performance of six different HPV tests in SurePath and PreservCyt in a referral population using two samples from each woman. The primary goal was to compare the performance of each test in the two media. Comparisons between assays and viral load comparisons between media were secondary aims...
September 2016: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
P U Prakash Saxena, Donald Jerard Fernandes, Mamidipudi Srinivasa Vidyasagar, Anshul Singh, Krishna Sharan
CONTEXT: To identify the incidence of human papilloma virus (HPV) infection in squamous esophageal cancer. AIMS: To identify high-risk (HR) HPV positivity rates in patients with squamous carcinoma esophagus and to compare their characteristics with HPV negative counterparts. SETTINGS AND DESIGN: A prospective study, in which tumor biopsies of 18 consecutive patients with squamous carcinoma of the esophagus treated with definitive chemo-radiotherapy (CT-RT) were evaluated for the presence of HPV...
April 2016: Journal of Cancer Research and Therapeutics
Monique Stoffels, Daniel L Kastner
Autoinflammatory diseases are inborn disorders of the innate immune system characterized by episodes of systemic inflammation that are mediated largely by myeloid cells. The field of autoinflammatory diseases has been established since 1999, following the identification of the first genes underlying periodic fever syndromes. This review focuses on developments that have transformed the field in the last two years. We discuss three newly described monogenic autoinflammatory diseases [deficiency of adenosine deaminase 2 (DADA2), a subtype of macrophage activation syndrome (MAS), and stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI)], discuss the possibilities of somatic mosaicism and digenic inheritance, and give an update on new concepts in pathways involved in familial Mediterranean fever (FMF)...
August 31, 2016: Annual Review of Genomics and Human Genetics
Min-Kyung Yeo, Ahwon Lee, Soo Young Hur, Jong Sup Park
BACKGROUND: Human papillomavirus (HPV) is a major risk factor for cervical cancer. METHODS: We evaluated the clinical significance of the HPV DNA chip genotyping assay (MyHPV chip, Mygene Co.) compared with the Hybrid Capture 2 (HC2) chemiluminescent nucleic acid hybridization kit (Digene Corp.) in 867 patients. RESULTS: The concordance rate between the MyHPV chip and HC2 was 79.4% (kappa coefficient, κ = 0.55). The sensitivity and specificity of both HPV tests were very similar (approximately 85% and 50%, respectively)...
July 2016: Journal of Pathology and Translational Medicine
Lianguang Shang, Yumei Wang, Xiaocui Wang, Fang Liu, Abdugheni Abduweli, Shihu Cai, Yuhua Li, Lingling Ma, Kunbo Wang, Jinping Hua
Cotton fiber, a raw natural fiber material, is widely used in the textile industry. Understanding the genetic mechanism of fiber traits is helpful for fiber quality improvement. In the present study, the genetic basis of fiber quality traits was explored using two recombinant inbred lines (RILs) and corresponding backcross (BC) populations under multiple environments in Upland cotton based on marker analysis. In backcross populations, no significant correlation was observed between marker heterozygosity and fiber quality performance and it suggested that heterozygosity was not always necessarily advantageous for the high fiber quality...
2016: G3: Genes—Genomes—Genetics
Patricio Brand, P James B Dyck, Jie Liu, Sarah Berini, Duygu Selcen, Margherita Milone
TIA1 mutations cause Welander distal myopathy. MYH7 mutations result in various clinical phenotypes, including Laing distal myopathy and cardiomyopathy. We describe a family with coexisting TIA1 and MYH7 variants. The proband is a 67-year-old woman with easy tripping since childhood and progressive asymmetric distal limb weakness, but no cardiac involvement. Muscle biopsy showed rare rimmed vacuoles, minicore-like structures and congophilic inclusions. Her 66-year-old sister has a mild distal myopathy, supraventricular tachycardia and hypertrophic cardiomyopathy...
August 2016: Neuromuscular Disorders: NMD
Marluce Bibbo, Zi-Xuan Wang, Krister Jones, Charalambos Solomides, Rossitza Draganova-Tacheva, Robert Stapp
OBJECTIVE: We performed a retrospective review of Papanicolaou (Pap) testing to assess whether the cytology practice in our institution was affected by the introduction of high-risk (HR) human papillomavirus (HPV) assays over time. STUDY DESIGN: Cytology, HPV and histopathology records were retrieved from our laboratory information system from 2003 to 2015. Records for Digene Hybrid Capture 2®, Hologic Cervista® and Roche Cobas® HPV assays were obtained. A 3-month follow-up for HPV detected cases was performed, and results were correlated with cytology and biopsies...
June 2, 2016: Acta Cytologica
Leo H Wang, Rabi Tawil
Facioscapulohumeral muscular dystrophy (FSHD) is a clinically recognizable and relatively common muscular dystrophy. It is inherited mostly as an autosomal dominant disease or in a minority of cases, in a digenic pattern. The disease manifestation is variable and most likely dependent on genetic and epigenetic factors. We review the history, epidemiology, clinical presentation, and genetics of the disease, present the recently elucidated molecular pathogenesis, discuss the pathology and the possible consequence of the inflammation seen in the muscle biopsies, and consider future treatments...
July 2016: Current Neurology and Neuroscience Reports
Inas Mazen, Mohamed Abdel-Hamid, Mona Mekkawy, Joëlle Bignon-Topalovic, Radia Boudjenah, Mona El Gammal, Mona Essawi, Anu Bashamboo, Ken McElreavey
The phenotypic spectrum of patients carrying NR5A1 mutations ranges from 46,XY gonadal dysgenesis to male infertility. Phenotypic variability could be due to digenic or oligogenic inheritance of pathogenic variants in other testis-determining genes. Here, exome sequencing identified 2 pathogenic de novo NR5A1 mutations in 2 patients with 46,XY gonadal dysgenesis, p.Q206Tfs*20 and p.Arg313Cys. The latter patient also carried a missense mutation in MAP3K1. Our data extend the number of NR5A1 gene mutations associated with gonadal dysgenesis...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Kumihiro Matsuo, Yusuke Tanahashi, Tokuo Mukai, Shigeru Suzuki, Toshihiro Tajima, Hiroshi Azuma, Kenji Fujieda
BACKGROUND: Dual oxidase 2 (DUOX2) mutations are a cause of dyshormonogenesis (DH) and have been identified in patients with permanent congenital hypothyroidism (PH) and with transient hypothyroidism (TH). We aimed to elucidate the prevalence and phenotypical variations of DUOX2 mutations. METHODS: Forty-eight Japanese DH patients were enroled and analysed for sequence variants of DUOX2, DUOXA2, and TPO using polymerase chain reaction-amplified direct sequencing...
July 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Swati Gupta, Somayyeh Fahiminiya, Tracy Wang, Laura Dempsey Nunez, David S Rosenblatt, William T Gibson, Brian Gilfix, John J M Bergeron, Loydie A Jerome-Majewska
Using whole-exome sequencing, we identified homozygous mutations in two unlinked genes, SEC23A c.1200G>C (p.M400I) and MAN1B1 c.1000C>T (p.R334C), associated with congenital birth defects in two patients from a consanguineous family. Patients presented with carbohydrate-deficient transferrin, tall stature, obesity, macrocephaly, and maloccluded teeth. The parents were healthy heterozygous carriers for both mutations and an unaffected sibling with tall stature carried the heterozygous mutation in SEC23A only...
May 2016: Cold Spring Harbor Molecular Case Studies
Lianguang Shang, Qingzhi Liang, Yumei Wang, Yanpeng Zhao, Kunbo Wang, Jinping Hua
QTL mapping based on backcross and RIL populations suggests that epistasis together with partial dominance, over-dominance and their environmental interactions of QTLs play an important role in yield heterosis in upland cotton. A backcross population (BC) was constructed to explore the genetic basis of heterosis in upland cotton (Gossypium hirsutum L.). For yield and yield components, recombinant inbred line (RIL) and BC populations were evaluated simultaneously at three different locations. A total of 35 and 30 quantitative trait loci (QTLs) were detected based on the RILs and BC data, respectively...
July 2016: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
Espen Enerly, Jesper Bonde, Kristina Schee, Helle Pedersen, Stefan Lönnberg, Mari Nygård
Increasing attendance to screening offers the best potential for improving the effectiveness of well-established cervical cancer screening programs. Self-sampling at home for human papillomavirus (HPV) testing as an alternative to a clinical sampling can be a useful policy to increase attendance. To determine whether self-sampling improves screening attendance for women who do not regularly attend the Norwegian Cervical Cancer Screening Programme (NCCSP), 800 women aged 25-69 years in the Oslo area who were due to receive a 2nd reminder to attend regular screening were randomly selected and invited to be part of the intervention group...
2016: PloS One
Yuanyuan Hu, Charles E Smith, Amelia S Richardson, John D Bartlett, Jan C C Hu, James P Simmer
Matrix metalloproteinase 20 (MMP20) and kallikrein-related peptidase 4 (KLK4) are secreted proteinases that are essential for proper dental enamel formation. We characterized and compared enamel formed in wild-type, Mmp20 (-/-), Klk4 (-/-), Mmp20 (+/-) Klk4 (+/-), and Mmp20 (-/-) Klk4 (-/-) mice using dissecting and light microscopy, backscattered scanning electron microscopy (bSEM), SEM, microcomputed tomography (μCT), and energy-dispersive X-ray analysis (EDX). Following eruption, fractures were observed on Mmp20 (-/-), Klk4 (-/-), Mmp20 (+/-) Klk4 (+/-), and Mmp20 (-/-) Klk4 (-/-) molars...
March 2016: Molecular Genetics & Genomic Medicine
So Young Kim, Ah Reum Kim, Nayoung K D Kim, Chung Lee, Min Young Kim, Eun-Hee Jeon, Woong-Yang Park, Byung Yoon Choi
The molecular etiology of nonsyndromic sensorineural hearing loss (SNHL) in subjects with only one detectable autosomal recessive GJB2 mutation is unclear. Here, we report GJB2 single heterozygotes with various final genetic diagnoses and suggest appropriate diagnostic strategies. A total of 160 subjects with SNHL without phenotypic markers were screened for GJB2 mutations. Single-nucleotide variants or structural variations within the DFNB1 locus or in other deafness genes were examined by Sanger sequencing, breakpoint PCR, and targeted exome sequencing (TES) of 129 deafness genes...
April 2016: Medicine (Baltimore)
Kalliopi Pilichou, Gaetano Thiene, Barbara Bauce, Ilaria Rigato, Elisabetta Lazzarini, Federico Migliore, Martina Perazzolo Marra, Stefania Rizzo, Alessandro Zorzi, Luciano Daliento, Domenico Corrado, Cristina Basso
Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias and pathologically by an acquired and progressive dystrophy of the ventricular myocardium with fibro-fatty replacement. Due to an estimated prevalence of 1:2000-1:5000, AC is listed among rare diseases. A familial background consistent with an autosomal-dominant trait of inheritance is present in most of AC patients; recessive variants have also been reported, either or not associated with palmoplantar keratoderma and woolly hair...
2016: Orphanet Journal of Rare Diseases
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