ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2018
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 45 citations in OpenAlex.
- Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.Circulation research · 2021Trial
- Phenotypic Complexity and Diagnostic Utility of Exome Sequencing in ASD: Real-World Insights from Colombia.International journal of molecular sciences · 2026Article
- Mitochondrial dysfunction underlies cardiac contractility and growth defects in a zebrafish model ofbioRxiv : the preprint server for biology · 2026Article
- Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.European journal of human genetics : EJHG · 2026Article
- Neuroanatomical features of NAA10 and NAA15-related neurodevelopmental syndromes.Journal of neuroradiology = Journal de neuroradiologie · 2025Article
- Natural History of NAA15 -Related Neurodevelopmental Disorder Through Adolescence.American journal of medical genetics. Part A · 2025Article
- Exome sequencing in Nigerian children with early-onset epilepsy syndromes.Epilepsia open · 2025Article
- PUF60 Promotes Chemoresistance Through Drug Efflux and Reducing Apoptosis in Gastric Cancer.International journal of medical sciences · 2025Article
- A repository of Ogden syndrome patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editing.bioRxiv : the preprint server for biology · 2024Article
- Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention.American journal of medical genetics. Part A · 2024Article
- Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature.European journal of human genetics : EJHG · 2024Review
- Longitudinal Adaptive Behavioral Outcomes in Ogden Syndrome by Seizure Status and Therapeutic Intervention.medRxiv : the preprint server for health sciences · 2024Article
- RNA binding proteins in cardiovascular development and disease.Current topics in developmental biology · 2024Article
- Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing.Frontiers in genetics · 2024Article
- Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.Nature genetics · 2023Article
- Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review.Children (Basel, Switzerland) · 2023Review
- Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused byGenes · 2022Review
- Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor activity.Scientific reports · 2021Article
- Case Report: Phenotype-Gene Correlation in a Case of Novel Tandem 4q Microduplication With Short Stature, Speech Delay and Microcephaly.Frontiers in endocrinology · 2021Article
- Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.American journal of medical genetics. Part A · 2021Article
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
Abstract
Intellectual Disability (ID) is a clinically heterogeneous condition that affects 2-3% of population worldwide. In recent years, exome sequencing has been a successful strategy for studies of genetic causes of ID, providing a growing list of both candidate and validated ID genes. In this study, exome sequencing was performed on 28 ID patients in 27 patient-parent trios with the aim to identify de novo variants (DNVs) in known and novel ID associated genes. We report the identification of 25 DNVs out of which five were classified as pathogenic or likely pathogenic. Among these, a two base pair deletion was identified in the PUF60 gene, which is one of three genes in the critical region of the 8q24.3 microdeletion syndrome (Verheij syndrome). Our result adds to the growing evidence that PUF60 is responsible for the majority of the symptoms reported for carriers of a microdeletion across this region. We also report variants in several genes previously not associated with ID, including a de novo missense variant in NAA15. We highlight NAA15 as a novel candidate ID gene based on the vital role of NAA15 in the generation and differentiation of neurons in neonatal brain, the fact that the gene is highly intolerant to loss of function and coding variation, and previously reported DNVs in neurodevelopmental disorders.
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