DCPS and EDC3
In 2015, we published a paper that shows the involvement of two genes, DCPS and EDC3 in autosomal recessive intellectual disability (ID), suggesting the involvement of mRNA degradation pathways as a biological pathway important for neurodevelopment and involved in the etiology of ID (Ahmed et al, 2015;PMID:25701870).
The DCPS mutations identified showed ablated decapping activity in the 3′ to 5′ mRNA degradation pathway, and the EDC3 mutation removed the ability of EDC3 to enhance DCP2 decapping in the 5′ to 3′ mRNA degradation pathway. Two affected individuals carry a splice site mutation, and have ID with some possible facial features. One girl in the Pakistani family is a compound heterozygote for the splice site mutation and a missense mutation, and shows ID plus a possible myopathy.
Ng et al, 2015 also published, back-to-back with Ahmed et al in Human Molecular Genetics, a report of mutation in DCPS associated with ID and myopathy.
