NAA15Research
Every published study, every Simons Searchlight registry enrollment, and every family who shared their story has moved the science forward. Here is where we are.
2018
Year First Described
38+
Individuals in Landmark Study
15+
International Institutions Involved
Active
Simons Searchlight Registry
Research Milestones
NAA15 research has progressed rapidly since 2018. Each milestone below links directly to the source publication or resource.
Featured Studies
These are the most important published works on NAA15. Each one has shaped our understanding of the condition and informed clinical practice.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, et al. (33 unrelated families, 15+ international institutions)
The foundational international paper establishing NAA15 as a distinct neurodevelopmental syndrome. Identified 38 individuals from 33 unrelated families across the US, Netherlands, UK, Australia, Belgium, France, Italy, Canada, and Norway. Documented both de novo (22 families) and inherited (3 families) variants. Key phenotype data: ID 100%, speech delay 97%, motor delay 97%, ASD/behavioral 91%, feeding difficulties 57%, dysmorphism 64%, seizures 23%, cardiac defects 21%. Norwegian biochemists (Arnesen lab) contributed yeast functional assay data.
Phenotypic and Biochemical Analysis of an International Cohort of Individuals with Variants in NAA10 and NAA15
Cheng H, Gottlieb L, Marchi E, Kleyner R, et al.
International cohort study providing phenotypic and biochemical analysis of individuals with variants in NAA10 and NAA15. Expanded the clinical picture and confirmed variable expressivity — severity can differ even between individuals with the same variant within the same family. Confirmed both de novo and inherited inheritance patterns.
Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by NAA15 Pathogenic Variants
Tian Y, Xie H, Yang S, Shangguan S, Wang J, Jin C, et al. (Capital Institute of Pediatrics, Beijing, China)
Chinese developmental cohort study screening 769 NDD children. Identified 4 NAA15 variants (0.52% frequency) including one maternal (inherited) case. All 4 children presented with mild developmental delay. Crucially, documented possible catch-up developmental trajectories in 3 of 4 patients — particularly in gross motor, personal-social, and language abilities — with physical rehabilitation. Important for prognosis and genetic counseling.
Expanding the Phenotypic Spectrum of NAA10-Related Neurodevelopmental Syndrome and NAA15-Related Neurodevelopmental Syndrome
Lyon GJ, Vedaie M, Beisheim T, et al.
Expands the known phenotypic spectrum of NAA10 and NAA15-related neurodevelopmental syndrome. Documents variable expressivity, inheritance patterns including both de novo and inherited cases, and broader clinical features across a larger international cohort. Provides updated natural history data.
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency
Ward T, Tai W, Morton S, et al.
Published in AHA Journals, this study details the molecular mechanisms by which NAA15 haploinsufficiency causes congenital heart disease. Establishes the cardiac basis for NAA15-related disorder and supports routine cardiology evaluation at diagnosis. Companion to Ritter et al. documenting pediatric hypertrophic cardiomyopathy.
Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental Syndromes
Patel R, Makwana R, Christ C, Marchi E, Ung N, Harpell R, Miyake CY, Gropman AL, Lyon GJ, Whitehead MT
First dedicated neuroimaging analysis of NAA10 and NAA15 patients (26 probands: 18 NAA10, 8 NAA15). NAA15 individuals had an average of 2.8 anatomical abnormalities vs 5.7 for NAA10 (p=.02). Brain MRI is often reported as 'normal' in routine clinical care, but expert neuroradiological review reveals subtle findings. No globus pallidus hyperintensity in NAA15 (unlike NAA10). Pons volume changes in 3/8 NAA15 probands. Structural-functional correlations with Vineland adaptive behavior scores.
A Natural History of NAA15-Related Neurodevelopmental Disorder Through Adolescence
Makwana R, Christ C, Marchi E, et al.
Longitudinal natural history study of NAA15-related neurodevelopmental disorder through adolescence, drawing on the Simons Searchlight registry. Documents developmental trajectories, seizure prevalence, cardiac findings, and behavioral profiles across a growing international cohort. Provides the most comprehensive longitudinal clinical picture to date.
Published Research Links
Every link below is a verified source used in the NAA15 research community. Click any to access the original resource.
General Overview & Databases
Simons Searchlight: NAA15 Gene Guide
Comprehensive gene guide for families and clinicians
Simons Searchlight: NAA15 Research Program
Active research program and registry enrollment
Human Disease Genes: NAA15 (Netherlands)
Dutch curated clinical and genetic database entry
HDG: Clinical Characteristics (Professionals)
Detailed clinical characteristics for professionals
HDG: Publications for Families
Family-facing publication list from Human Disease Genes
Orphanet: NAA15-Related Intellectual Disability
International rare disease classification and resources
SFARI Gene Database: NAA15 (Autism)
Autism gene database entry for NAA15
ClinGen Gene Dosage: NAA15 (HGNC:30782)
Global gene dosage curation from ClinGen
Genomics England PanelApp: NAA15 (UK)
UK clinical genomics panel resource
ERN ITHACA: NAA15 Beyond Childhood (Europe)
European network call for adult NAA15 patient data
Foundational & International Papers
Cheng et al. (2018) — AJHG: Foundational International Cohort
38 individuals from 33 families across 15+ international institutions
PMC5986698: NatA Complex and NAA15 Variants (Full Text)
Free full-text access to the foundational molecular study
PMC6736318: International Phenotypic & Biochemical Analysis (2019)
International cohort with NAA10 and NAA15 variants
Natural History / Longitudinal / Broader Phenotype
PMC11071585: NAA15 Neurodevelopmental Syndrome — Natural History
Recent longitudinal study on NAA15 neurodevelopmental syndrome
PubMed 38978667: Natural History Through Adolescence (2024)
Makwana et al. — longitudinal natural history study
Lyon et al. (2023) — Nature/EJHG: Expanding Phenotypic Spectrum
Expanded phenotypic spectrum of NAA10/NAA15-related syndrome
Wiley AJMG: NAA15 Natural History (ajmg.a.64009)
American Journal of Medical Genetics natural history study
ScienceDirect: NAA15 Neurodevelopmental Study (2025)
Recent study on NAA15 neurodevelopmental features
China / Developmental Trajectory / Inherited + De Novo Cases
PMC8954815: Chinese Cohort — Catch-Up Trajectories (Tian et al., 2022)
769 Chinese NDD children screened; catch-up trajectories documented
PubMed 35328089: Chinese Developmental Cohort
Inherited + de novo cases in Chinese cohort
MDPI Genes: NAA15 Variant Analysis (2022)
Genetic variant analysis of NAA15 published in Genes journal
Neuroanatomy / Brain Imaging / Expanded Neurology
Help Advance the Research
Enrolling in the Simons Searchlight registry is one of the most impactful things a family can do. Your data helps researchers understand NAA15 and move toward better treatments.