Mutations in EXOSC5 may be associated with sudden cardiac death.
Chromosome: 19q13.2
Gene: EXOSC5 (exosome component 5)
Function: part f the RNA exosome (involved in the processing, degradation and regulated turnover of RNA)
Inheritance: autosomal recessive
Clinical features:
(1) developmental delay
(2) hypotonia
(3) cerebellar abnormalities
(4) dysmorphic facies with microcephaly
(5) cardiac conduction abnormalities (complex heart block, sinus node dysfunction, intraventricular conduction delay) and/or ventricular tachycardia
6) hypomyelination
The risk of cardiac conduction defects and sudden cardiac death is greater in individuals with biallelic variants.
