scholarly journals Diagnostic outcomes of exome gene panel sequencing in patients with unusual syndromic cleft lip/palate phenotypes

2018 ◽  
Author(s):  
Reza Jabalameli
Keyword(s):  
Cleft Lip ◽  
Gene Panel ◽  
Individual Gene ◽  
Orofacial Clefting ◽  
Operation Smile ◽  
Clinical Diagnoses ◽  
Cleft Lip Palate ◽  
Gene Coverage ◽  
Gene Panel Sequencing ◽  
Panel Sequencing

Orofacial clefting (OFC) is a common craniofacial birth defect that has a prevalence of 1.2 in 1,000 live births. Syndromic OFC in which patients present with additional developmental deficits are identified to have a strong genetic component. We applied exome gene panel sequencing in a cohort of 14 Colombian patients identified at Operation Smile in Bogota, Colombia, with syndromic orofacial clefting phenotypes and additional features initially suggesting Aarskog-Scott syndrome (AAS). Gene panel sequencing failed to identify any causal variants in the FGD1 gene which underlies this condition, but variants in a number of genes suggest alternative clinical diagnoses across five patients (~36%). The novel variants identified here maps to developmentally important genes including SRCAP, OFD1, NIPBL, GRIN2A and KMT2D6. Our result demonstrates the extensive heterogeneity underlying OFC and emphasises the need for systematic phenotyping of patients with rare conditions. Gene panel sequencing has the potential to cost-effectively resolve ambiguous clinical diagnoses, but rigorous attention should be paid to gene coverage as our results suggest highly variable read depths across individual gene exons and this may reduce the quality of variant calls at specific locations.

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 >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 >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 What If the Cleft Child is Yours?

2016 ◽  
Vol 5 (2) ◽  
pp. 318
Author(s):  
Hazel Berret Wahlang
Keyword(s):  
Cleft Lip ◽  
Social Stigma ◽  
Negative Attitude ◽  
The Other ◽  
Small State ◽  
Operation Smile ◽  
The World ◽  
Cleft Lip Palate ◽  
Social Gathering ◽  
The Devil

<div><p><em>Every 3 minutes, a child is born with a cleft lip or cleft palate and make the child to suffer from hunger and thirst, difficulty with speech and social stigma (Operation Smile, n.d.). Yes, Cleft (lip/palate)<strong> </strong>is usually accompanied with stigma from the society especially when they lack information about it. When a baby is born into the world the whole family rejoices but in the case of the cleft (lip/palate)<strong> </strong>child the parents end up in shock and sadness. It even makes the parents and their families think that having a cleft child is a curse in itself. One of the factors that the parents’ of cleft (lip/palate) child limit themselves from taking their cleft (lip/palate) child to social gathering as they are scared that the society may have a negative attitude towards them. Assumptions about its cause make the parents difficult to adjust to the situation. People would talk behind them discussing about the cause of cleft (lip/palate)<strong> </strong>saying that their parents did something wrong that is the reason why their cleft child is the consequence.</em> <em>Twelve year old twins from a small state (Meghalaya) in India do not want to go to school or play with the other children because they were named as daughters of the devil and ugly simply because they were born with a cleft lip. </em></p></div>

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
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