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Incidental genetic finding

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https://www.readbyqxmd.com/read/28600056/molecular-genetic-characterization-of-a-prenatally-detected-1-484-mb-xq13-3-q21-1-duplication-encompassing-atrx-and-a-literature-review-of-syndromic-intellectual-disability-and-congenital-abnormalities-in-males-with-a-duplication-at-xq13-3-q21-1
#1
Chih-Ping Chen, Hoi-Kin Yip, Liang-Kai Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of dup(X)(q13.3q21.1) in a male fetus and molecular genetic analysis in three generations and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. CASE REPORT: A 35-year-old, primigravid woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. The woman and her mother were phenotypically normal, and there was no intellectual disability in the maternal family...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28553188/incidental-detection-of-synchronous-medullary-thyroid-carcinoma-with-bilateral-adrenal-pheochromocytoma-on-iodine-123-metaiodobenzylguanidine-scintigraphy-leading-to-diagnosis-of-multiple-endocrine-neoplasia-2a
#2
Asif Ali Fakhri, Paul David Rodrigue, Mustafa Aladin, Aun Hussain
We report a case of a 29-year-old female with the family history of medullary thyroid carcinoma (MTC) presenting with hematuria and tachycardia, who was found to have bilateral adrenal masses on abdominal computed tomography and biochemical testing compatible with pheochromocytoma. Iodine-123 (I-123) metaiodobenzylguanidine (MIBG) scintigraphy for preoperative planning prior to planned adrenalectomy revealed incidental synchronous unifocal MTC, along with expected bilateral adrenal pheochromocytomas. Pathology confirmed these findings, and subsequent genetic testing confirmed a rearranged during transfection proto-oncogene mutation on exon 11, confirming the clinical diagnosis of multiple endocrine neoplasia 2A (MEN 2A)...
April 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28502252/differential-analysis-of-mutations-in-the-jewish-population-and-their-implications-for-diseases
#3
Yaron Einhorn, Daphna Weissglas-Volkov, Shai Carmi, Harry Ostrer, Eitan Friedman, Noam Shomron
Sequencing large cohorts of ethnically homogeneous individuals yields genetic insights with implications for the entire population rather than a single individual. In order to evaluate the genetic basis of certain diseases encountered at high frequency in the Ashkenazi Jewish population (AJP), as well as to improve variant annotation among the AJP, we examined the entire exome, focusing on specific genes with known clinical implications in 128 Ashkenazi Jews and compared these data to other non-Jewish populations (European, African, South Asian and East Asian)...
May 15, 2017: Genetics Research
https://www.readbyqxmd.com/read/28473029/-exome-sequencing-for-syndrome-diagnostics
#4
Elsebet Østergaard, Lotte Risom, Jakob Ek, Sabine Grønborg, Morten Dunø, Flemming Skovby
The majority of rare congenital disorders and syndromes have a genetic cause, but the diagnostic rate using standard workup is only around 50%. Whole exome and whole genome sequencing methods have improved the genetic diagnosis of syndromes during the latest few years. This article is a presentation of the current status of methods, results and ethical aspects, especially regarding incidental findings, of exome sequencing, which is now implemented in clinical diagnostics.
April 24, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28471438/electronic-health-record-phenotype-in-subjects-with-genetic-variants-associated-with-arrhythmogenic-right-ventricular-cardiomyopathy-a-study-of-30-716-subjects-with-exome-sequencing
#5
Christopher M Haggerty, Cynthia A James, Hugh Calkins, Crystal Tichnell, Joseph B Leader, Dustin N Hartzel, Christopher D Nevius, Sarah A Pendergrass, Thomas N Person, Marci Schwartz, Marylyn D Ritchie, David J Carey, David H Ledbetter, Marc S Williams, Frederick E Dewey, Alexander Lopez, John Penn, John D Overton, Jeffrey G Reid, Matthew Lebo, Heather Mason-Suares, Christina Austin-Tse, Heidi L Rehm, Brian P Delisle, Daniel J Makowski, Vishal C Mehra, Michael F Murray, Brandon K Fornwalt
PurposeArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease. Clinical follow-up of incidental findings in ARVC-associated genes is recommended. We aimed to determine the prevalence of disease thus ascertained.MethodsIndividuals (n = 30,716) underwent exome sequencing. Variants in PKP2, DSG2, DSC2, DSP, JUP, TMEM43, or TGFβ3 that were database-listed as pathogenic or likely pathogenic were identified and evidence-reviewed. For subjects with putative loss-of-function (pLOF) variants or variants of uncertain significance (VUS), electronic health records (EHR) were reviewed for ARVC diagnosis, diagnostic criteria, and International Classification of Diseases (ICD-9) codes...
May 4, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28462913/a-clinicopathologic-evaluation-of-incidental-fundic-gland-polyps-with-dysplasia-implications-for-clinical-management
#6
Isaac E Lloyd, Wendy K Kohlmann, Keith Gligorich, Amy Hall, Elaine Lyon, Erinn Downs-Kelly, Wade S Samowitz, Mary P Bronner
OBJECTIVES: Fundic gland polyps (FGPs) can rarely exhibit dysplasia of the surface epithelium. Based on retrospective data, FGPs with dysplasia (FGPDs) are thought to be a strong marker for familial adenomatous polyposis (FAP), although sporadic, non-syndromic FGPDs also occur. Owing to the significant syndromic association, diagnosis of an apparently sporadic FGPD may prompt clinical evaluation for FAP, especially its attenuated variant. We sought to evaluate the positive predictive value of incidental FGPDs for FAP...
May 2, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28452373/endometrial-cancer-gene-panels-clinical-diagnostic-vs-research-germline-dna-testing
#7
REVIEW
Amanda B Spurdle, Michael A Bowman, Jannah Shamsani, Judy Kirk
Endometrial cancer is the most common gynecological cancer, but is nevertheless uncommon enough to have value as a signature cancer for some hereditary cancer syndromes. Commercial multigene testing panels include up to 13 different genes annotated for germline DNA testing of patients with endometrial cancer. Many other genes have been reported as relevant to familial endometrial cancer from directed genome-wide sequencing studies or multigene panel testing, or research. This review assesses the evidence supporting association with endometrial cancer risk for 32 genes implicated in hereditary endometrial cancer, and presents a summary of rare germline variants in these 32 genes detected by analysis of quasi-population-based endometrial cancer patients from The Cancer Genome Atlas project...
April 28, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28405783/how-do-clinical-genetics-consent-forms-address-the-familial-approach-to-confidentiality-and-incidental-findings-a-mixed-methods-study
#8
Sandi Dheensa, Gillian Crawford, Claire Salter, Michael Parker, Angela Fenwick, Anneke Lucassen
Genetic test results can be relevant to patients and their relatives. Questions thus arise around whether clinicians regard genetic information as confidential to individuals or to families, and about how they broach this and other issues, including the potential for incidental findings, in consent (forms) for genetic testing. We conducted a content analysis of UK-wide genetic testing consent forms and interviewed 128 clinicians/laboratory scientists. We found that almost all genetic services offered patients multiple, sometimes unworkable, choices on forms, including an option to veto the use of familial genetic information to benefit relatives...
April 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28361097/independent-variant-analysis-of-tead1-and-ocel1-in-38-aicardi-syndrome-patients
#9
Bibiana K Y Wong, Vernon R Sutton, Richard A Lewis, Ignatia B Van den Veyver
BACKGROUND: Aicardi syndrome is a severe neurodevelopmental disorder characterized by infantile spasms, typical chorioretinal lacunae, agenesis of the corpus callosum, and other neuronal migration defects. It has been reported recently that de novo variants in TEAD1 and OCEL1 each may cause Aicardi syndrome in a single individual of a small cohort of females with this clinical diagnosis. These data were interpreted to suggest that the clinical diagnosis of Aicardi syndrome may be genetically heterogeneous...
March 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28327571/insights-from-early-experience-of-a-rare-disease-genomic-medicine-multidisciplinary-team-a-qualitative-study
#10
Elizabeth Ormondroyd, Michael P Mackley, Edward Blair, Jude Craft, Julian C Knight, John Taylor, Jenny C Taylor, Andrew Om Wilkie, Hugh Watkins
Whole-exome/whole-genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate patients, provision of effective consent, pre- and post-test genetic counselling, improving variant interpretation algorithms and practices, and management of secondary findings including those found incidentally and those actively sought...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28275421/treating-a-structural-heart-disease-using-a-non-structural-approach-role-of-cardiac-pacing-in-hypertrophic-cardiomyopathy
#11
Bernard Benjamin P Albano, Erdie C Fadreguilan, Jeffrey M Chua, James Ho, Ana Beatriz Medrano
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease characterized by a thickened non-dilated ventricle in the absence of another cardiac or systemic condition. Its most important hemodynamic consequence is left ventricular outflow tract (LVOT) obstruction. The primary management strategy of this condition is surgical septal myectomy, but an acceptable alternative treatment in patients who are not suitable for (or who refuse) surgery is alcohol septal ablation (ASA). However, in patients with unfavorable coronary anatomy which precludes ASA (i...
February 2017: Cardiology Research
https://www.readbyqxmd.com/read/28170340/adrenocortical-neoplasms-in-adulthood-and-childhood-distinct-presentation-review-of-the-clinical-pathological-and-imaging-characteristics
#12
Andréa Farias de Melo-Leite, Paula Condé Lamparelli Elias, Sara Reis Teixeira, Silvio Tucci, Gyl Eanes Barros, Sonir R Antonini, Valdair Francisco Muglia, Jorge Elias
Adrenocortical tumors (ACT) in adulthood and childhood vary in clinical, histopathological, molecular, prognostic, and imaging aspects. ACT are relatively common in adults, as adenomas are often found incidentally on imaging. ACT are rare in children, though they have a significantly higher prevalence in the south and southeast regions of Brazil. In clinical manifestation, adults with ACT present more frequently with glucocorticoid overproduction (Cushing syndrome), mineralocorticoid syndromes (Conn syndrome), or the excess of androgens in women...
March 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28145427/variability-in-assigning-pathogenicity-to-incidental-findings-insights-from-ldlr-sequence-linked-to-the-electronic-health-record-in-1013-individuals
#13
Maya S Safarova, Eric W Klee, Linnea M Baudhuin, Erin M Winkler, Michelle L Kluge, Suzette J Bielinski, Janet E Olson, Iftikhar J Kullo
Knowledge of variant pathogenicity is key to implementing genomic medicine. We describe variability between expert reviewers in assigning pathogenicity to sequence variants in LDLR, the causal gene in the majority of cases of familial hypercholesterolemia. LDLR was sequenced on the Illumina HiSeq platform (average read depth >200 × ) in 1013 Mayo Biobank participants recruited from 2012 to 2013. Variants with a minor allele frequency (MAF) <5% predicted to be functional or referenced in HGMD (Human Gene Mutation Database) or NCBI-ClinVar databases were reviewed...
April 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28141766/choroidal-nevus-a-review-of-prevalence-features-genetics-risks-and-outcomes
#14
REVIEW
Jason L Chien, Kareem Sioufi, Thamolwan Surakiatchanukul, Jerry A Shields, Carol L Shields
PURPOSE OF REVIEW: To review the prevalence, clinical features, imaging findings, cytogenetics, and risks and outcomes of choroidal nevus. RECENT FINDINGS: Choroidal nevus is a benign melanocytic tumor, often discovered incidentally on ophthalmic examination. This lesion is generally well circumscribed and pigmented. The prevalence of choroidal nevus in postequatorial region in United States adults (≥40 years old) is approximately 5%. Choroidal nevus is associated with higher lifetime unopposed estrogen and greater BMI...
May 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28140662/pediatric-issues-in-return-of-results-and-incidental-findings-weighing-autonomy-and-best-interests
#15
Ingrid A Holm
Nowhere are the ethical issues in genomic research more complex than in pediatrics. Balancing the sometime conflicting autonomy of the parent and the child, and the best interest of the family and the child, brings up many challenging issues. Addressing this balance, especially in the context of the child's developing maturity and comprehension, requires deep analysis and discussion. Issues discussed include the impact of genetic information on the family, parental versus the child's autonomy, the best interests of the child versus the family, potential limitations on the parents' right to know or not know information about their child, and changing role of the developing child in return of research results...
March 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28140456/discussing-molecular-testing-in-oncology-care-comparing-patient-and-physician-information-preferences
#16
Ana P M Pinheiro, Rachel H Pocock, Jeffrey M Switchenko, Margie D Dixon, Walid L Shaib, Suresh S Ramalingam, Rebecca D Pentz
BACKGROUND: Molecular testing to inform treatment and clinical trial choices is now the standard of care for several types of cancer. However, no established guidelines exist for the type of information physicians should cover during discussions with the patient about the test or its results. The objectives of this study were to identify physician and patient preferences regarding information and who should communicate this information and how to inform guidelines for these conversations...
May 1, 2017: Cancer
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#17
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28093708/multiple-sclerosis-and-eif2b5-a-paradox-or-a-missing-link
#18
Insha Zahoor, Ehtishamul Haq, Ravouf Asimi
Multiple sclerosis (MS) is an encumbering inflammatory condition of the central nervous system (CNS) caused by axonal demyelination. There is sufficient evidence suggesting role of eukaryotic translation initiation factor 2B (EIF2B) gene family encoding the five subunits of eIF2B complex-α, β, γ, δ and ε respectively, in causing vanishing white matter (VWM) disease of the brain. Incidentally researchers have proposed overlapping between MS and VWM in terms of clinical, biochemical and genetic aspects, which incited us to write this chapter to explore the association between EIF2B5 and MS...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28028416/right-hemispheric-leukoencephalopathy-as-an-incidental-finding-following-a-lightning-strike
#19
Jera Kruja, Altin Kuqo, Serla Grabova, Arben Rroji, Gentian Vyshka
BACKGROUND: Lightning injuries may produce a variety of medical conditions, and specific neurological complications have been identified, with the character of immediate aftershock effects or even long-term consequences. AIM: The authors describe the incidental finding following a routine unenhanced brain MRI performed to a young female patient, suffering from a headache. CASE REPORT: Diffuse white matter changes with the character of a leukoencephalopathy were seen, which strictly interested only the right cerebral hemisphere...
December 15, 2016: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/27930565/a-case-report-with-the-peculiar-concomitance-of-2-different-genetic-syndromes
#20
REVIEW
Alberto Lerario, Irene Colombo, Donatella Milani, Lorenzo Peverelli, Luisa Villa, Roberto Del Bo, Monica Sciacco, Giacomo Pietro Comi, Susanna Esposito, Maurizio Moggio
RATIONALE: Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far. PATIENT CONCERNS: An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period...
December 2016: Medicine (Baltimore)
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