scholarly journals Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations

Diabetes ◽  
2021 ◽  
pp. db210520
Author(s):  
Cécile Saint-Martin ◽  
Delphine Bouvet ◽  
Mathilda Bastide ◽  
Christine Bellanné Chantelot ◽  
Keyword(s):  
Monogenic Diabetes ◽  
Gene Panel ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

scholarly journals Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations

2021 ◽  
Author(s):  
Cécile Saint-Martin ◽  
Delphine Bouvet ◽  
Mathilda Bastide ◽  
Christine Bellanné-Chantelot
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Wolfram Syndrome ◽  
Monogenic Diabetes ◽  
Gene Panel ◽  
Genetic Syndrome ◽  
The Third ◽  
Gene Panel Sequencing ◽  
Inherited Diabetes ◽  
Panel Sequencing

Gene panel sequencing (NGS) offers the possibility to analyze rare forms of monogenic diabetes (MgD). To that end, 18 genes were analyzed in 1676 patients referred for MODY genetic testing. <p>Among the 307 patients with a molecular diagnosis of MgD, 55 (17.9%) were mutated in a gene associated with a genetic syndrome. Eight percent (n=25) of the patients with mutations carried the m.3243A>G variant associated with MIDD (Maternally inherited diabetes and deafness). At time of referral very little had reported hearing loss or any other element of the typical syndromic presentation. Six percent of the patients were mutated in <i>HNF1B</i> even though the typical extra-pancreatic features were not known at time of referral. Surprisingly the third most prominent etiology in these rare forms was the <i>WFS1</i> gene accounting for 2.9% of the patients with pathogenic mutations (n=9). None of them depicted a Wolfram syndrome presentation even though some features were reported in 6/9 patients. </p> <p>Restricting the analysis of certain genes to patients with the respective specific phenotypes would miss out those with partial presentations. These results therefore underlie the undisputable benefit of NGS strategies even though the situation implies cascade consequences both for the molecular biologist and the clinician.</p>

scholarly journals Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations

2021 ◽  
Author(s):  
Cécile Saint-Martin ◽  
Delphine Bouvet ◽  
Mathilda Bastide ◽  
Christine Bellanné-Chantelot
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Wolfram Syndrome ◽  
Monogenic Diabetes ◽  
Gene Panel ◽  
Genetic Syndrome ◽  
The Third ◽  
Gene Panel Sequencing ◽  
Inherited Diabetes ◽  
Panel Sequencing

Gene panel sequencing (NGS) offers the possibility to analyze rare forms of monogenic diabetes (MgD). To that end, 18 genes were analyzed in 1676 patients referred for MODY genetic testing. <p>Among the 307 patients with a molecular diagnosis of MgD, 55 (17.9%) were mutated in a gene associated with a genetic syndrome. Eight percent (n=25) of the patients with mutations carried the m.3243A>G variant associated with MIDD (Maternally inherited diabetes and deafness). At time of referral very little had reported hearing loss or any other element of the typical syndromic presentation. Six percent of the patients were mutated in <i>HNF1B</i> even though the typical extra-pancreatic features were not known at time of referral. Surprisingly the third most prominent etiology in these rare forms was the <i>WFS1</i> gene accounting for 2.9% of the patients with pathogenic mutations (n=9). None of them depicted a Wolfram syndrome presentation even though some features were reported in 6/9 patients. </p> <p>Restricting the analysis of certain genes to patients with the respective specific phenotypes would miss out those with partial presentations. These results therefore underlie the undisputable benefit of NGS strategies even though the situation implies cascade consequences both for the molecular biologist and the clinician.</p>

scholarly journals Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing

2021 ◽  
Author(s):  
Arun Shastry ◽  
Sankaramoorthy Aravind ◽  
Meeta Sunil ◽  
Keerthi Ramesh ◽  
Berty Ashley ◽  
...  
Keyword(s):  
Gene Panel ◽  
South Indian ◽  
Dmd Gene ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

scholarly journals PATH-11. PROSPECTIVE (EPI-)GENETIC CLASSIFICATION OF > 1,000 PEDIATRIC CNS TUMORS—THE MNP 2.0 STUDY

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii426-iii426
Author(s):  
Dominik Sturm ◽  
Felix Sahm ◽  
Felipe Andreiuolo ◽  
David Capper ◽  
Marco Gessi ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Gene Panel ◽  
Cns Tumors ◽  
Lower Grade ◽  
High Grade ◽  
Sequencing Data ◽  
Cns Tumor ◽  
Gene Panel Sequencing ◽  
Tumor Entities ◽  
Panel Sequencing

Abstract The large variety of CNS tumor entities affecting children and adolescents, some of which are exceedingly rare, results in very diverging patient outcomes and renders accurate diagnosis challenging. To assess the diagnostic utility of routine DNA methylation-based CNS tumor classification and gene panel sequencing, the Molecular Neuropathology 2.0 study prospectively integrated these (epi-)genetic analyses with reference neuropathological diagnostics as an international trial for newly-diagnosed pediatric patients. In a four-year period, 1,215 patients with sufficient tissue were enrolled from 65 centers, receiving a reference neuropathological diagnosis according to the WHO classification in &gt;97%. Using 10 FFPE sections as input, DNA methylation analysis was successfully performed in 95% of cases, of which 78% with sufficient tumor cell content were assigned to a distinct epigenetic tumor class. The remaining 22% did not match any of 82 represented classes, indicating novel rare tumor entities. Targeted gene panel sequencing of &gt;130 genes performed for 96% of patients with matched blood samples detected diagnostically, prognostically, or therapeutically relevant somatic alterations in 48%. Germline DNA sequencing data indicated potential predisposition syndromes in ~10% of patients. Discrepant results by neuropathological and epigenetic classification (29%) were enriched in histological high-grade gliomas and implicated clinical relevance in 5% of all cases. Clinical follow-up suggests improved survival for some patients with high-grade glioma histology and lower-grade molecular profiles. Routine (epi-)genetic profiling at the time of primary diagnosis adds a valuable layer of information to neuropathological diagnostics and will improve clinical management of CNS tumors.

scholarly journals Characterization of intellectual disability and autism comorbidity through gene panel sequencing

2019 ◽  
Vol 40 (9) ◽  
pp. 1346-1363 ◽  
Author(s):  
Maria C. Aspromonte ◽  
Mariagrazia Bellini ◽  
Alessandra Gasparini ◽  
Marco Carraro ◽  
Elisa Bettella ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Gene Panel ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

scholarly journals Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk

2015 ◽  
Vol 372 (23) ◽  
pp. 2243-2257 ◽  
Author(s):  
Douglas F. Easton ◽  
Paul D.P. Pharoah ◽  
Antonis C. Antoniou ◽  
Marc Tischkowitz ◽  
Sean V. Tavtigian ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Gene Panel ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

scholarly journals Assessment of tumor mutation burden calculation from gene panel sequencing data

2019 ◽  
Vol Volume 12 ◽  
pp. 3401-3409 ◽  
Author(s):  
Zhenwu Xu ◽  
Jiawei Dai ◽  
Dandan Wang ◽  
Hui Lu ◽  
Heng Dai ◽  
...  
Keyword(s):  
Gene Panel ◽  
Sequencing Data ◽  
Tumor Mutation Burden ◽  
Mutation Burden ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy

2020 ◽  
Vol 42 (6) ◽  
pp. 438-448 ◽  
Author(s):  
Ji-Hoon Na ◽  
Saeam Shin ◽  
Donghwa Yang ◽  
Borahm Kim ◽  
Heung Dong Kim ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Gene Panel ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

The diagnostic utility of targeted gene panel sequencing in discriminating etiologies of cytopenia

2019 ◽  
Vol 94 (10) ◽  
pp. 1141-1148 ◽  
Author(s):  
Gang Zheng ◽  
Ping Chen ◽  
Aparna Pallavajjalla ◽  
Lisa Haley ◽  
Lukasz Gondek ◽  
...  
Keyword(s):  
Gene Panel ◽  
Diagnostic Utility ◽  
Gene Panel Sequencing ◽  
Panel Sequencing
Sign in / Sign up

Export Citation Format

Share Document