Back to today’s briefing

Story perspectives

Study Links Autism to Genetic Mutation in DM1

4/24/2025

37 4

Summary

Story summary

A groundbreaking study by researchers at SickKids and UNLV has uncovered a genetic connection between autism spectrum disorder (ASD) and myotonic dystrophy type 1 (DM1). They found that expansions in the DMPK gene disrupt crucial gene splicing, potentially triggering ASD symptoms. This pivotal discovery opens new avenues for diagnosing and treating ASD.

1 of 1

Story summary

A groundbreaking study by researchers at SickKids and UNLV has uncovered a genetic connection between autism spectrum disorder (ASD) and myotonic dystrophy type 1 (DM1). They found that expansions in the DMPK gene disrupt crucial gene splicing, potentially triggering ASD symptoms. This pivotal discovery opens new avenues for diagnosing and treating ASD.