Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant

Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report

Published:2020-07-22 Issue:1 Volume:21 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Bader Ingrid^ORCID,McTiernan Nina,Darbakk Christine,Boltshauser Eugen,Ree Rasmus,Ebner Sabine,Mayr Johannes A.,Arnesen Thomas

Funder

Research Council of Norway

Norwegian Health Authorities of Western Norway

Norwegian Cancer Society

ERA‐Net E‐Rare project GENOMIT

Vereinigung zur Förderung Pädiatrischer Forschung und Fortbildung Salzburg

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-020-01091-1.pdf

Reference39 articles.

1. Aksnes H, Ree R, Arnesen T. Co-translational, post-translational, and non-catalytic roles of N-terminal Acetyltransferases. Mol Cell. 2019;73(6):1097–114.

2. Arnesen T, Van Damme P, Polevoda B, Helsens K, Evjenth R, Colaert N, Varhaug JE, Vandekerckhove J, Lillehaug JR, Sherman F, et al. Proteomics analyses reveal the evolutionary conservation and divergence of N-terminal acetyltransferases from yeast and humans. Proc Natl Acad Sci U S A. 2009;106(20):8157–62.

3. Arnesen T, Anderson D, Baldersheim C, Lanotte M, Varhaug JE, Lillehaug JR. Identification and characterization of the human ARD1-NATH protein acetyltransferase complex. Biochem J. 2005;386(Pt 3):433–43.

4. Arnesen T, Anderson D, Torsvik J, Halseth HB, Varhaug JE, Lillehaug JR. Cloning and characterization of hNAT5/hSAN: an evolutionarily conserved component of the NatA protein N-α-acetyltransferase complex. Gene. 2006;371(2):291–5.

5. Arnesen T, Starheim KK, Van Damme P, Evjenth R, Dinh H, Betts MJ, Ryningen A, Vandekerckhove J, Gevaert K, Anderson D. The chaperone-like protein HYPK acts together with NatA in Cotranslational N-terminal acetylation and prevention of Huntingtin aggregation. Mol Cell Biol. 2010;30(8):1898–909.

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