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Start Over Author "Kjartan R. Gudmundsson" Journal nature communications
3 results on '"Kjartan R. Gudmundsson"'

1. Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene

Author

Gudny A. Arnadottir, Asmundur Oddsson, Brynjar O. Jensson, Svanborg Gisladottir, Mariella T. Simon, Asgeir O. Arnthorsson, Hildigunnur Katrinardottir, Run Fridriksdottir, Erna V. Ivarsdottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Rebekah Barrick, Jona Saemundsdottir, Louise le Roux, Gudjon R. Oskarsson, Jurate Asmundsson, Thora Steffensen, Kjartan R. Gudmundsson, Petur Ludvigsson, Jon J. Jonsson, Gisli Masson, Ingileif Jonsdottir, Hilma Holm, Jon G. Jonasson, Olafur Th. Magnusson, Olafur Thorarensen, Jose Abdenur, Gudmundur L. Norddahl, Daniel F. Gudbjartsson, Hans T. Bjornsson, Unnur Thorsteinsdottir, Patrick Sulem, and Kari Stefansson

Subjects
Science
Abstract

While the consequences of homozygous loss of function variants have been studied, the effect of missense variants is less understood. Here, the authors identify pathogenic genotypes through an observed deficit of homozygous carriers of missense variants in a population, elucidating previously unexplained recessive disease and miscarriage.

Published
2022
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2. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

Author

Gudny A. Arnadottir, Gudmundur L. Norddahl, Steinunn Gudmundsdottir, Arna B. Agustsdottir, Snaevar Sigurdsson, Brynjar O. Jensson, Kristbjorg Bjarnadottir, Fannar Theodors, Stefania Benonisdottir, Erna V. Ivarsdottir, Asmundur Oddsson, Ragnar P. Kristjansson, Gerald Sulem, Kristjan F. Alexandersson, Thorhildur Juliusdottir, Kjartan R. Gudmundsson, Jona Saemundsdottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Paolo Manzanillo, Sigurjon A. Gudjonsson, Gudmundur A. Thorisson, Olafur Th. Magnusson, Gisli Masson, Kjartan B. Orvar, Hilma Holm, Sigurdur Bjornsson, Reynir Arngrimsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Ingileif Jonsdottir, Asgeir Haraldsson, Patrick Sulem, and Kari Stefansson

Subjects
Science
Abstract

Mutations in genes encoding NAPDH oxidase subunits are known to be causative for the primary immunodeficiency chronic granulomatous disease (CGD). Here, the authors identify CYBC1 mutations in patients with CGD and show that CYBC1 is important for formation of the NADPH complex and respiratory burst.

Published
2018
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3. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

Author

Kjartan R Gudmundsson, Olafur Th Magnusson, Thorhildur Juliusdottir, Unnur Thorsteinsdottir, Jona Saemundsdottir, Ásgeir Haraldsson, Gisli Masson, Steinunn Gudmundsdottir, Aslaug Jonasdottir, Erna V. Ivarsdottir, Sigurdur Bjornsson, Adalbjorg Jonasdottir, Gudmundur A. Thorisson, Daniel F. Gudbjartsson, Asmundur Oddsson, Kari Stefansson, Sigurjon A. Gudjonsson, Gudmundur L. Norddahl, Kristjan F. Alexandersson, Snaevar Sigurdsson, Ragnar P. Kristjansson, Hilma Holm, Brynjar O. Jensson, Gerald Sulem, Kjartan B. Orvar, Gudny A. Arnadottir, Asgeir Sigurdsson, Arna B Agustsdottir, Kristbjorg Bjarnadottir, Fannar Theodors, Patrick Sulem, Paolo Manzanillo, Stefania Benonisdottir, Ingileif Jonsdottir, Reynir Arngrímsson, Faculty of Medicine (UI), Læknadeild (HÍ), School of Engineering and Natural Sciences (UI), Verkfræði- og náttúruvísindasvið, Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands (HÍ), and University of Iceland (UI)

Subjects
0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Science, General Physics and Astronomy, Granulomatous Disease, Chronic, Inflammatory bowel disease, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Chronic granulomatous disease, Immunological deficiency syndromes, NADPH oxidase complex, Loss of Function Mutation, immune system diseases, hemic and lymphatic diseases, medicine, Erfðafræði, Humans, Colitis, lcsh:Science, Child, Ónæmisfræði, Respiratory Burst, Oxidase test, Multidisciplinary, NADPH oxidase, biology, business.industry, Disease genetics, Homozygote, Rare variants, General Chemistry, Antimicrobial responses, Cytochromes b, medicine.disease, Respiratory burst, Pedigree, 030104 developmental biology, 030220 oncology & carcinogenesis, Immunology, biology.protein, Primary immunodeficiency, lcsh:Q, Female, business
Abstract

Publisher's version (útgefin grein) Publisher’s note: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations., Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary immunodeficiency. Here we describe how deficiency of CYBC1, a previously uncharacterized protein in humans (C17orf62), leads to reduced expression of NADPH oxidase’s main subunit (gp91phox) and results in CGD. Analyzing two brothers diagnosed with CGD we identify a homozygous loss-of-function mutation, p.Tyr2Ter, in CYBC1. Imputation of p.Tyr2Ter into 155K chipgenotyped Icelanders reveals six additional homozygotes, all with signs of CGD, manifesting as colitis, rare infections, or a severely impaired PMA-induced neutrophil oxidative burst. Homozygosity for p.Tyr2Ter consequently associates with inflammatory bowel disease (IBD) in Iceland (P = 8.3 × 10−8; OR = 67.6), as well as reduced height (P = 3.3 × 10−4; −8.5 cm). Overall, we find that CYBC1 deficiency results in CGD characterized by colitis and a distinct profile of infections indicative of macrophage dysfunction., We wish to thank the family of the two probands, as well as all the other individuals who participated in the study and whose contribution made this work possible.

Published
2018

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