NAA15

Last update 08 May 2025

Basic Info

Synonyms

FLJ13340, GA19, Gastric cancer antigen Ga19

+ [8]

Introduction

Auxillary subunit of N-terminal acetyltransferase complexes which display alpha (N-terminal) acetyltransferase (NAT) activity (PubMed:15496142, PubMed:20154145, PubMed:29754825, PubMed:32042062). The NAT activity may be important for vascular, hematopoietic and neuronal growth and development (PubMed:15496142). Required to control retinal neovascularization in adult ocular endothelial cells (PubMed:11687548). In complex with XRCC6 and XRCC5 (Ku80), up-regulates transcription from the osteocalcin promoter (PubMed:12145306).

100 Clinical Results associated with NAA15

100 Translational Medicine associated with NAA15

0 Patents (Medical) associated with NAA15

212

Literatures (Medical) associated with NAA15

01 Jun 2025·Journal of Neuroradiology

Neuroanatomical features of NAA10 and NAA15-related neurodevelopmental syndromes

Article

Author: Goncalves, Fabricio Guimaraes ; Lyon, Gholson J ; Christ, Carolina ; Miyake, Christina Y ; Makwana, Rikhil ; Whitehead, Matthew T ; Marchi, Elaine ; Patel, Rahi

BACKGROUNDNAA10-related and NAA15-related neurodevelopmental (ND) syndromes present with intellectual disability, hypotonia, cardiac abnormalities, and delayed development. While data exists on the clinical manifestations of these conditions, there are few reports describing the neuroanatomical abnormalities present on imaging.OBJECTIVEWe aim to provide neuroimaging analyses for a subset of probands with NAA10- and NAA15-related neurodevelopmental symptoms and assess the severity and number of neuroanatomical anomalies and their associated functional impairments to better understand the pathophysiology of these disease processes.MATERIALS AND METHODSNeuroimaging studies were obtained from 26 probands (18 with pathogenic variants in NAA10, 8 with pathogenic variants in NAA15) and evaluated. In depth medical histories were also collected on probands, including genetic testing results and developmental history. The Vineland 3 Adaptive Behavior Scale was also administered to assess functional status of the probands.RESULTSOn average, individuals with NAA10-related ND syndrome had 5.7 anatomical abnormalities (standard deviation (SD) = 3.0), whereas those with NAA15-related ND syndrome had 2.8 (SD = 2.3, p = 0.02). Probands with a greater number of anatomical abnormalities tended to score worse on Vineland assessments. Structure and function were correlated such that individuals with greater defects on, for example, motor regions of their scans, tested worse on motor portions of the Vineland. Probands followed longitudinally demonstrated several changes between scans, most commonly in the cerebellum, brainstem, and degree of myelination. Such changes were only observed for probands with NAA10-related ND syndrome.CONCLUSIONThis analysis of a cohort of probands with NAA10-related ND syndrome and NAA15-related ND syndrome by two neuroradiologists has established a range of subtle abnormalities. We hope these findings guide future research and diagnostic studies for this population.

01 Feb 2025·Epilepsia Open

Exome sequencing in Nigerian children with early‐onset epilepsy syndromes

Article

Author: Hentschel, Julia ; Syrbe, Steffen ; Lemke, Johannes R. ; Radtke, Maximilian ; Rotimi, Solomon Oladapo ; Ademuwagun, Ibitayo Abigail ; Adebiyi, Ezekiel ; Adam, Yagoub

AbstractObjectiveNigeria, along with other Sub‐Saharan African countries, bears the highest burden of epilepsy worldwide. This high prevalence is attributed to a combination of factors, including a significant incidence of infectious diseases, perinatal complications, and genetic etiologies. Genetic testing is rarely available and is not typically included in the routine diagnostic work‐up for individuals with infantile and childhood epilepsy syndromes in these regions. Exome sequencing (ES) offers a diagnostic yield of 24%–62%, but these figures primarily reflect data from high‐income countries (HICs) and may not be applicable to low‐ and middle‐income countries (LMICs). In this study, we employed ES to investigate the genetic basis of early‐onset epilepsy in 22 affected children from Nigeria.MethodsThe study involved sampling of patients diagnosed with early‐onset epilepsy syndromes at the Lagos State University Teaching Hospital (LASUTH) Neurology clinic. Venous blood samples were collected, and genomic DNA was isolated and purified. Molecular analysis included DNA fragmentation, ligation, target enrichment, library preparation, and whole‐exome sequencing. Computational analysis involved variant calling, curation, and classification using specialized tools and databases.ResultsPathogenic variants were identified in 6 out of 22 individuals, equaling a diagnostic yield of 27.3% and comprising variants in BPTF, NAA15, SCN1A, TUBA1A and twice in CACNA1A.SignificanceIn this study, we present the first exome study on early‐onset epilepsy syndromes from West Africa, facilitated by a Nigerian‐German research collaboration. Our findings reveal a genetic diagnostic yield comparable to that of HICs. The integration of genomic medicine into epilepsy management in Nigeria holds promising prospects for improving patient care and reducing mortality rates.Plain Language SummaryThis study represents the first published exome findings in Nigerian children with early‐onset epilepsy, revealing a genetic diagnosis in 27% of cases. Pathogenic variants were identified in five genes amongst 6 of 22 patients, underscoring the potential of genetic testing to enhance epilepsy management in developing nations like Nigeria.

01 Dec 2024·American Journal of Medical Genetics Part A

Ophthalmic manifestations of NAA10‐related and NAA15‐related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors

Article

Author: Whitehead, Matthew T. ; Gropman, Andrea L. ; Lyon, Gholson J. ; Marchi, Elaine ; Patel, Rahi ; Park, Agnes Y.

AbstractNAA10‐related (Ogden syndrome) and NAA15‐related neurodevelopmental syndrome are known to present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. However, the ophthalmic manifestations of NAA10 and NAA15 variants are not yet fully characterized or understood. This study analyzed the prevalence of six ophthalmic conditions (cortical visual impairment, myopia, hyperopia, strabismus, nystagmus, and astigmatism) in 67 patients with pathogenic (P) or likely pathogenic (LP) variants in the NAA10 cohort (54 inherited, 10 de novo; 65 missense, 2 frameshift) and 19 patients with (L)P variants in the NAA15 cohort (18 de novo; 8 frameshift, 4 missense, 4 nonsense, and 1 splice site). Patients were interviewed virtually or in‐person to collect a comprehensive medical history verified by medical records. These records were then analyzed to calculate the prevalence of these ophthalmic manifestations in each cohort. Analysis revealed a higher prevalence of ophthalmic conditions in our NAA10 cohort compared to existing literature (myopia 25.4% vs. 4.7%; astigmatism 37.3% vs. 13.2%; strabismus 28.4% vs. 3.8%; CVI 22.4% vs. 8.5%, respectively). No statistically significant differences were identified in the prevalence of these conditions between the NAA10 and NAA15 variants. Our study includes novel neuroimaging of 13 NAA10 and 5 NAA15 probands, which provides no clear correlation between globe size and severity of comorbid ophthalmic disease. Finally, anecdotal evidence was compiled to underscore the importance of early ophthalmologic evaluations and therapeutic interventions.

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NAA15

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