Identification of a pathogenic variant in TREX1 in early-onset cerebral SLE by whole-exome sequencing

Pathology ◽  
2016 ◽  
Vol 48 ◽  
pp. S47 ◽  
Author(s):  
Julia I. Ellyard ◽  
Rebekka Jerjen ◽  
Jaime L. Martin ◽  
Adrian Lee ◽  
Matthew A. Field ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Early Onset ◽  
Pathogenic Variant ◽  
Whole Exome

scholarly journals Brief Report: Identification of a Pathogenic Variant in TREX1 in Early-Onset Cerebral Systemic Lupus Erythematosus by Whole-Exome Sequencing

2014 ◽  
Vol 66 (12) ◽  
pp. 3382-3386 ◽  
Author(s):  
Julia I. Ellyard ◽  
Rebekka Jerjen ◽  
Jaime L. Martin ◽  
Adrian Y. S. Lee ◽  
Matthew A. Field ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Lupus Erythematosus ◽  
Early Onset ◽  
Pathogenic Variant ◽  
Systemic Lupus ◽  
Whole Exome

scholarly journals Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

2015 ◽  
Vol 24 (5) ◽  
pp. 710-716 ◽  
Author(s):  
Gaël Nicolas ◽  
David Wallon ◽  
Camille Charbonnier ◽  
Olivier Quenez ◽  
Stéphane Rousseau ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Early Onset ◽  
Whole Exome

scholarly journals Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing

2018 ◽  
Vol 9 ◽  
Author(s):  
Mathias Cavaillé ◽  
Flora Ponelle-Chachuat ◽  
Nancy Uhrhammer ◽  
Sandrine Viala ◽  
Mathilde Gay-Bellile ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Early Onset ◽  
Cowden Syndrome ◽  
Atypical Presentation ◽  
Primary Tumors ◽  
Multiple Primary Tumors ◽  
Whole Exome ◽  
Multiple Primary

scholarly journals CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease

2019 ◽  
Vol 25 (11) ◽  
pp. 1788-1795 ◽  
Author(s):  
Thomas Magg ◽  
Anna Shcherbina ◽  
Duran Arslan ◽  
Mukesh M Desai ◽  
Sarah Wall ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Early Onset ◽  
Mononuclear Cells ◽  
Severe Disease ◽  
Effector Memory ◽  
Loss Of Function ◽  
Peripheral Blood Mononuclear ◽  
Whole Exome ◽  
Inflammatory Bowel

Abstract Background Children with very early onset inflammatory bowel diseases (VEO-IBD) often have a refractory and severe disease course. A significant number of described VEO-IBD-causing monogenic disorders can be attributed to defects in immune-related genes. The diagnosis of the underlying primary immunodeficiency (PID) often has critical implications for the treatment of patients with IBD-like phenotypes. Methods To identify the molecular etiology in 5 patients from 3 unrelated kindred with IBD-like symptoms, we conducted whole exome sequencing. Immune workup confirmed an underlying PID. Results Whole exome sequencing revealed 3 novel CARMIL2 loss-of-function mutations in our patients. Immunophenotyping of peripheral blood mononuclear cells showed reduction of regulatory and effector memory T cells and impaired B cell class switching. The T cell proliferation and activation assays confirmed defective responses to CD28 costimulation, consistent with CARMIL2 deficiency. Conclusion Our study highlights that human CARMIL2 deficiency can manifest with IBD-like symptoms. This example illustrates that early diagnosis of underlying PID is crucial for the treatment and prognosis of children with VEO-IBD.

scholarly journals Whole exome sequencing identifies FBN1 mutations in two patients with early-onset type B aortic dissection

2017 ◽  
Vol 16 (5) ◽  
pp. 6620-6625
Author(s):  
Qian Han ◽  
Wenwen Zhang ◽  
Changjian Liu ◽  
Min Zhou ◽  
Feng Ran ◽  
...  
Keyword(s):  
Aortic Dissection ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Early Onset ◽  
Type B ◽  
Type B Aortic Dissection ◽  
Onset Type ◽  
Whole Exome

Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non-syndromic deafness

2018 ◽  
Vol 94 (5) ◽  
pp. 419-428 ◽  
Author(s):  
X. Lu ◽  
Q. Wang ◽  
H. Gu ◽  
X. Zhang ◽  
Y. Qi ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Dominant ◽  
Pathogenic Variant ◽  
Whole Exome

scholarly journals Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy

2019 ◽  
Vol 497 ◽  
pp. 88-94
Author(s):  
Tsz-ki Ling ◽  
Chun-yiu Law ◽  
Kin-wing Yan ◽  
Nai-chung Fong ◽  
Ka-chung Wong ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Pathogenic Variant ◽  
Whole Exome ◽  
Coq10 Deficiency
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