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Updated: Jan 7, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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Published on: June 15, 2011

Secuenciación de ARN ofrece nuevas oportunidades diagnósticas en trastornos del neurodesarrollo: una revisión

Jessica Rosenblum¹, Ellen Rijckmans², Randy Osei³

¹Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem, Belgium; Translational Neurosciences, University of Antwerp, Antwerp, Belgium.

Genetics in medicine : official journal of the American College of Medical Genetics

|December 25, 2025

Abstracto

Purpose:

Transcriptomics by way of RNA sequencing (RNAseq) has emerged as a means to increase the diagnostic yield in genetic conditions. In this systematic review, we focus on the contribution of transcriptomics to improve the diagnostic yield in neurodevelopmental disorders.

Methods:

We performed a systematic literature search in PubMed until January 2024, including articles describing diagnostic RNAseq on at least one individual with a primary neurodevelopmental phenotype. We extracted data on cohort size, phenotype, sample tissue, previously used diagnostic methods, added diagnostic yield of RNAseq, the use of control samples, and technical aspects of the RNA sequencing methodology.

Results:

17 articles were eligible for inclusion in the systematic review. We found an average added diagnostic yield of 15·5% through RNA sequencing for individuals with neurodevelopmental disorders. There is heterogeneity in the tissue type, reported quality measures, and the computational pipeline.

Conclusion:

The significantly increased diagnostic yield demonstrates the value of this novel tool in the diagnostic setting of neurodevelopmental disorders. Our results offer an overview of common methodologies for RNAseq and allow us to formulate recommendations for genetic labs and clinicians when implementing RNAseq as a diagnostic tool. Lastly, we provide recommendations for future publications in order to increase transparency and reproducibility.

Palabras clave:

Diagnóstico Genético Trastornos del Neurodesarrollo Secuenciación de ARN Transcriptómica

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