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NAA10-related syndrome.
Wu Y, Lyon GJ. Wu Y, et al. Exp Mol Med. 2018 Jul 27;50(7):1-10. doi: 10.1038/s12276-018-0098-x. Exp Mol Med. 2018. PMID: 30054457 Free PMC article. Review.
NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro in NAA10, originally described as Ogden syndrome, to the milder NAA10-related intellectual disability found with different vari …
NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro i …
Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.
Gogoll L, Steindl K, Joset P, Zweier M, Baumer A, Gerth-Kahlert C, Tutschek B, Rauch A. Gogoll L, et al. Am J Med Genet A. 2021 Aug;185(8):2546-2560. doi: 10.1002/ajmg.a.62351. Epub 2021 Jun 1. Am J Med Genet A. 2021. PMID: 34075687 Free PMC article. Review.
Ogden syndrome is a rare lethal X-linked recessive disorder caused by a recurrent missense variant (Ser37Pro) in the NAA10 gene, encoding the catalytic subunit of the N-terminal acetyltransferase A complex (NatA). ...By describing new presenting features, we are fur …
Ogden syndrome is a rare lethal X-linked recessive disorder caused by a recurrent missense variant (Ser37Pro) in the NAA10 gen …
NAA10 variant in 38-week-gestation male patient: a case study.
Afrin A, Prokop JW, Underwood A, Uhl KL, VanSickle EA, Baruwal R, Wajda M, Rajasekaran S, Bupp C. Afrin A, et al. Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):a005868. doi: 10.1101/mcs.a005868. Print 2020 Dec. Cold Spring Harb Mol Case Stud. 2020. PMID: 33335012 Free PMC article.
Whole-exome sequencing returned posthumously and identified a variant in NAA10, E100K. The genotype-phenotype was closest to Ogden syndrome or amino-terminal acetyltransferase deficiency. Typical features of this rare X-linked syndrome include progeroid appearance, …
Whole-exome sequencing returned posthumously and identified a variant in NAA10, E100K. The genotype-phenotype was closest to Ogden …
NAA10 gene related Ogden syndrome with obstructive hypertrophic cardiomyopathy: A rare case report.
Li F, Wang W, Li Y, Liu X, Zhu Z, Tang J, Hu Y. Li F, et al. Medicine (Baltimore). 2024 Feb 9;103(6):e36034. doi: 10.1097/MD.0000000000036034. Medicine (Baltimore). 2024. PMID: 38335407 Free PMC article.
RATIONALE: Ogden syndrome is an exceptionally rare X-linked disease caused by mutations in the NAA10 gene. ...PATIENT CONCERNS: We present the clinical profile of a 3-year-old girl with Ogden syndrome carrying a de novo NAA10 variant [NM_003491:c.247C& …
RATIONALE: Ogden syndrome is an exceptionally rare X-linked disease caused by mutations in the NAA10 gene. ...PATIENT CONCERNS …
A Saccharomyces cerevisiae model reveals in vivo functional impairment of the Ogden syndrome N-terminal acetyltransferase NAA10 Ser37Pro mutant.
Van Damme P, Støve SI, Glomnes N, Gevaert K, Arnesen T. Van Damme P, et al. Mol Cell Proteomics. 2014 Aug;13(8):2031-41. doi: 10.1074/mcp.M113.035402. Epub 2014 Jan 9. Mol Cell Proteomics. 2014. PMID: 24408909 Free PMC article.
Although early genetic studies in yeast demonstrated that NAT-deletion strains displayed a variety of phenotypes, only recently, the first human genetic disorder caused by a mutation in a NAT gene was reported; boys diagnosed with the X-linked Ogden syndrome harbor …
Although early genetic studies in yeast demonstrated that NAT-deletion strains displayed a variety of phenotypes, only recently, the first h …
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
Popp B, Støve SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, Rauch A, Arnesen T, Reis A. Popp B, et al. Eur J Hum Genet. 2015 May;23(5):602-9. doi: 10.1038/ejhg.2014.150. Epub 2014 Aug 6. Eur J Hum Genet. 2015. PMID: 25099252 Free PMC article.
A single hypomorphic missense variant p.(Ser37Pro) was previously associated with Ogden syndrome in eight affected males from two different families. ...In an attempt to explain the discrepant phenotype, we used in vitro N-terminal acetylation assays which suggested …
A single hypomorphic missense variant p.(Ser37Pro) was previously associated with Ogden syndrome in eight affected males from …
NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report.
McTiernan N, Støve SI, Aukrust I, Mårli MT, Myklebust LM, Houge G, Arnesen T. McTiernan N, et al. BMC Med Genet. 2018 Mar 20;19(1):47. doi: 10.1186/s12881-018-0559-z. BMC Med Genet. 2018. PMID: 29558889 Free PMC article.
In recent years, NAA10 variants have been found in patients with an X-linked developmental disorder called Ogden syndrome in its most severe form and, in other familial or de novo cases, with variable degrees of syndromic intellectual disability (ID) affecting both …
In recent years, NAA10 variants have been found in patients with an X-linked developmental disorder called Ogden syndrome in i …