Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation

What is it about?

A 17-year-old male with autism spectrum disorder, intellectual disability, and acute behavioral decompensation was found to have a complex rearrangement in the RFX3 gene using long-read genome sequencing, resulting in loss of function of this gene. This case highlights the value of pursuing genetic testing, including with advanced sequencing methods, during inpatient psychiatric admissions for accurate diagnosis.

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