scholarly journals Novel Homozygous Nonsense Mutation in LRP5 Gene in Two Siblings with Osteoporosispseudoglioma Syndrome

2021 ◽  
Vol 0 (0) ◽  
pp. 0-0
Author(s):  
Abolfazl Heidari ◽  
Ali Homaei ◽  
Fatemeh Saffari
Keyword(s):  
Nonsense Mutation ◽  
Homozygous Nonsense Mutation

scholarly journals Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

2014 ◽  
Vol 134 (1) ◽  
pp. 215-218.e3 ◽  
Author(s):  
Siobhan O. Burns ◽  
Vincent Plagnol ◽  
Beatriz Morillo Gutierrez ◽  
Daifulah Al Zahrani ◽  
James Curtis ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Mycobacterial Infection ◽  
Homozygous Nonsense Mutation

A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia

2021 ◽  
pp. 104260
Author(s):  
Ivana Radulovic ◽  
Alma Kuechler ◽  
Michael M. Schündeln ◽  
Michael Paulussen ◽  
Nils von Neuhoff ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Nonsense Mutation ◽  
Homozygous Nonsense Mutation

scholarly journals A novel homozygous nonsense mutation (p.y78*) in tmprss6 gene causing iron-refractory iron deficiency anemia (irida) in two siblings

2020 ◽  
Vol 62 (1) ◽  
pp. 103
Author(s):  
Seda Çakmaklı ◽  
Çiğdem Kaplan ◽  
Mehmet Uzunoğlu ◽  
Merve Büyükbayram ◽  
Emel Görgülü ◽  
...  
Keyword(s):  
Iron Deficiency ◽  
Iron Deficiency Anemia ◽  
Nonsense Mutation ◽  
Deficiency Anemia ◽  
Homozygous Nonsense Mutation

scholarly journals Homozygous nonsense mutation inSGCAis a common cause of limb-girdle muscular dystrophy in Assiut, Egypt

2016 ◽  
Vol 54 (4) ◽  
pp. 690-695 ◽  
Author(s):  
Hemakumar M. Reddy ◽  
Sherifa A. Hamed ◽  
Monkol Lek ◽  
Satomi Mitsuhashi ◽  
Elicia Estrella ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Nonsense Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Common Cause ◽  
Homozygous Nonsense Mutation

scholarly journals A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke

2020 ◽  
Author(s):  
Elli Katharine Greisenegger ◽  
Sara Llufriu ◽  
Angel Chamorro ◽  
Alvaro Cervera ◽  
Adriano Jimenez-Escrig ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Underlying Disease ◽  
Allelic Loss ◽  
Pediatric Stroke ◽  
Loss Of Function ◽  
Whole Exome ◽  
Epidermal Growth ◽  
Epidermal Growth Factor Repeat ◽  
Homozygous Nonsense Mutation ◽  
Sneddon Syndrome

Abstract Sneddon syndrome is a rare disorder affecting small and medium-sized blood vessels that is characterized by the association of livedo reticularis and stroke. We performed whole-exome sequencing (WES) in 2 affected siblings of a consanguineous family with childhood-onset stroke and identified a homozygous nonsense mutation within the epidermal growth factor repeat (EGFr) 19 of NOTCH3, p.(Arg735Ter). WES of 6 additional cases with adult-onset stroke revealed 2 patients carrying heterozygous loss-of-function variants in putative NOTCH3 downstream genes, ANGPTL4, and PALLD. Our findings suggest that impaired NOTCH3 signaling is one underlying disease mechanism and that bi-allelic loss-of-function mutation in NOTCH3 is a cause of familial Sneddon syndrome with pediatric stroke.

scholarly journals A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome

2019 ◽  
Vol 182 (3) ◽  
pp. 570-575 ◽  
Author(s):  
Katrin Koehler ◽  
Markus Schuelke ◽  
Anna K. Hell ◽  
Michael Schittkowski ◽  
Angela Huebner ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Cohen Syndrome ◽  
Homozygous Nonsense Mutation
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