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

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

Abstract Background NAA10 is the catalytic subunit of the major N-terminal acetyltransferase complex NatA which acetylates almost half the human proteome. Over the past decade, many NAA10 missense variants have been reported as causative of genetic disease in humans. Individuals harboring NAA10 vari...

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Bibliographic Details
Main Authors: Ingrid Bader, Nina McTiernan, Christine Darbakk, Eugen Boltshauser, Rasmus Ree, Sabine Ebner, Johannes A. Mayr, Thomas Arnesen
Format: Article
Language:English
Published: BMC 2020-07-01
Series:BMC Medical Genetics
Subjects:
NAA10
X-linked intellectual disability (XLID)
N-alpha-acetyltransferase
Acetylation
NatA
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-020-01091-1

Internet

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

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