Key result
In a boy with autism, a de novo translocation t(5;18) disrupted the 18q breakpoint between DSC1 and DSC2, leading to monoallelic expression of DSC2 which may increase risk for ARVC.
Case Report (n=1)
Monoallelic expression of DSC2 due to a de novo translocation in an autistic patient may confer a risk for arrhythmogenic right ventricular cardiomyopathy.
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May link autism to ARVC risk via DSC2; hypothesis-generating and requires validation before any clinical consideration.
Vincent et al. (2008) conducted a case report in Autism (n=1). de novo balanced translocation t(5;18)(q33.1;q12.1) was evaluated on Identification of breakpoints and allele-specific gene expression. In a boy with autism, a de novo translocation t(5;18) disrupted the 18q breakpoint between DSC1 and DSC2, leading to monoallelic expression of DSC2 which may increase risk for ARVC.
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