Online first
Current issue
Archive
Special Issues
About the Journal
Publication Ethics
Anti-Plagiarism system
Instructions for Authors
Instructions for Reviewers
Editorial Board
Editorial Office
Contact
Reviewers
All Reviewers
2023
2022
2021
2020
2019
2018
2017
2016
General Data Protection Regulation (RODO)
CASE REPORT
A four-year-old girl with pathogenic variant in the NAA10 gene and precocious puberty – case report and literature review
1
Independent Laboratory of Genetic Diagnostics, Medical University, Lublin, Poland
2
Student Scientific Society, Independent Laboratory of Genetic Diagnostics, Medical University Lublin, Poland
3
MEDGEN Medical Centre, Warsaw, Poland
Corresponding author
Katarzyna Wojciechowska
Independent Laboratory of Genetic Diagnostics, Medical University of Lublin, Lublin, Poland
Independent Laboratory of Genetic Diagnostics, Medical University of Lublin, Lublin, Poland
Ann Agric Environ Med. 2024;31(2):306-310
KEYWORDS
TOPICS
ABSTRACT
The NAA10 gene encodes N-alpha-acetyltransferase 10 which plays an important role in cell growth, differentiation, DNA damage, metastasis, apoptosis, stress response and autophagy. Defects in the NAA10 gene correlate with the diagnosis of NAA10-related syndrome (Ogden syndrome). The most common symptoms of NAA10-related syndrome are: global developmental delay, non-verbal or limited speech, autism spectrum disorder, feeding difficulties, motor delay, muscle tone disturbances, and long QT syndrome. To-date, there are about 100 patients who have been reported with this condition. The case report presents the clinical study of a girl aged 4 years and 3 months diagnosed with Ogden syndrome. She had many characteristic features of the disorder, as well as precocious puberty. This girl represents the case of a patient with p.Arg83Cys mutation in NAA10 gene as well as precocious puberty.
REFERENCES (25)
1.
Dörfel MJ and Lyon GJ. The biological functions of Naa10—from amino-terminal acetylation to human disease. Gene. 2015;567:103–131. doi: 10.1016/j.gene.2015.04.085.
2.
Casey JP, Støve SI, McGorrian C, et al. NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment. Sci Rep 2015; 5: 16022. doi: 10.1038/srep16022.
3.
Myklebust LM, Van Damme P, Støve SI, et al. Biochemical and cellular analysis of Ogden Syndrome reveals downstream Nt-acetylation defects. Hum Mol Genet. 2015;24:1956–1976. doi: 10.1093/hmg/ddu611.
4.
Arnesen T, Van Damme P, Polevoda B, et al. Proteomics analyses reveal the evolutionary conservation and divergence of N-terminal acetyltransferases from yeast and humans. Proc National Acad Sci. 2009; 106(20): 8157–8162. https://doi.org/10.1073/pnas.0....
5.
Lee MN, Kweon HY, Oh GT. N-α-acetyltransferase 10 (NAA10) in development: the role of NAA10. Exp Mol Med. 2018; 50(7): 1–11. doi: 10.1038/s12276–018–0105–2.
6.
Lyon GJ, Longo J, Garcia A, et al. Evaluating possible maternal effect lethality of Naa10 knockout mice, and modulation of phenotypes for embryonic and neonatal lethality by genetic background and environment. bioRxiv [Preprint]. 2023; 27:2023.04.27.538618. doi: 10.1101/2023.04.27.538618.
7.
Saunier C, Støve SI, Popp B, et al. Expanding the phenotype associated with NAA10-related N-terminal acetylation deficiency. Hum Mutat. 2016;37(8):755–764. doi: 10.1002/humu.23001.
8.
Popp B, Stove SI, Endele S, et al. De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. Eur J Hum Genet. 2015;23:602–609.
9.
Wu Y, Lyon GJ. NAA10-related syndrome. Exp Mol Med. 2018;50(7):1–10. doi: 10.1038/s12276–018–0098-x.
10.
Esmailpour T, Riazifar H, Liu L, et al. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet. 2014;51:185–196. doi: 10.1136/jmedgenet-2013–101660.
11.
Rope AF, Wang K, Evjenth R et al. Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet. 2011;89:28–43. doi: 10.1016/j.ajhg.2011.05.017.
12.
Maini I, Caraffi SG, Peluso F, et al. Clinical manifestations in a girl with NAA10-related syndrome and genotype–phenotype correlation in females. Genes. 2021;12(6): 900. https://doi.org/10.3390/genes1....
13.
Aksnes H, Ree R, Arnesen T. Co-translational, post-translational, and non-catalytic roles of N-terminal Acetyltransferases. Mol Cell. 2019;73(6):1097–1114. doi: 10.1016/j.molcel.2019.02.007.
14.
Lyon GJ, Vedaie M, Beisheim T, et al. Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome. Eur J Hum Genet. 2023; 31:824–833. doi: 10.1038/s41431–023–01368-y.
15.
Sandomirsky K, Marchi E, Gavin M, et al. Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10-related neurodevelopmental syndrome. Am J Med Genet A. 2023; 191:1293–1300. doi: 10.1002/ajmg.a.63152.
16.
Gupta AS, Al Saif H, Lent JM, et al. Ocular Manifestations of the NAA10-Related Syndrome. Case Rep Genet. 2019; 2019: 8492965.doi: 10.1155/2019/8492965.
17.
Sidhu M, Brady L, Tarnopolsky M, et al. Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome. Pediatr Neurol. 2017; 76:82–85. doi: 10.1016/j.pediatrneurol.2017.07.010.
18.
Bader I, McTiernan N, Darbakk C, et al. 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. BMC Med Genet. 2020; 21: 153. doi:10.1186/s12881–020–01091–1.
19.
Hofman J, Hutny M, Chwialkowska K, et al. Case report: Rare among ultrarare – Clinical odyssey of a new patient with Ogden syndrome. Front Genet. 2022;13:979377. doi:10.3389/fgene.2022.979377.
20.
Shishido A, Morisada N, Tominaga K, et al. A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy. Hum Genome Var. 2020; 7: 23. doi: 10.1038/s41439–020–00110–0.
21.
Wei K, Zou C. Clinical manifestations in a Chinese girl with heterozygous de novo NAA10 variant c. 247C > T, p. (Arg83Cys): a case report. Front Pediatr. 2023; 11:1198906. doi: 10.3389/fped.2023.1198906.
22.
McTiernan N, Støve SI, Aukrust I, et al. 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. BMC Med Genet. 2018; 19: 47. https://doi.org/10.1186/s12881....
23.
Valentine V, Sogawa Y, Rajan D, et al. A case of de novo NAA10 mutation presenting with eyelid myoclonias (aka Jeavons syndrome). Seizure.2018;60:120–122. https://doi.org/10.1016/j.seiz....
24.
Gogoll L, Steindl K, Joset P, et al. Confirmation of Ogden Syndrome as an X-linked recessive fatal disorder due to a recurrent naa10 variant and review of the literature. Am J Med Genet Part A. 2021;185(8): 2546–2560. https://doi.org/10.1002/ajmg.a....
25.
Ree R, Geithus AS, Tørring PM, et al. A novel NAA10 P.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly. BMC Med Genet. 2019; 20: 1. https://doi.org/10.1186/1.
| eISSN: | 1898-2263 |
| ISSN: | 1232-1966 |
Improvement of visual identification of the journal - task financed under the agreement No. 618/P-DUN/2019 by the Minister of Science and Higher Education allocated to the activities of disseminating science.
Generation of the DOI (Digital Object Identifier) - task financed under the agreement No. 618/P-DUN/2019 by the Minister of Science and Higher
© 2006-2024 Journal hosting platform by Bentus
We process personal data collected when visiting the website. The function of obtaining information about users and their behavior is carried out by voluntarily entered information in forms and saving cookies in end devices. Data, including cookies, are used to provide services, improve the user experience and to analyze the traffic in accordance with the Privacy policy. Data are also collected and processed by Google Analytics tool (more).
You can change cookies settings in your browser. Restricted use of cookies in the browser configuration may affect some functionalities of the website.
You can change cookies settings in your browser. Restricted use of cookies in the browser configuration may affect some functionalities of the website.
