Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.

doi:10.1093/hmg/ddv069

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Article

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.

Human molecular genetics - 1 Jun 2015

Ahmed Iltaf, Buchert Rebecca, Zhou Mi, Jiao Xinfu, Mittal Kirti, Sheikh Taimoor I, Scheller Ute, Vasli Nasim, Rafiq Muhammad Arshad, Brohi M Qasim, Mikhailov Anna, Ayaz Muhammad, Bhatti Attya, Sticht Heinrich, Nasr Tanveer, Carter Melissa T, Uebe Steffen, Reis André, Ayub Muhammad, John Peter, Kiledjian Megerditch, Vincent John B, Jamra Rami Abou

Abstract excerpt

There are two known mRNA degradation pathways, 3' to 5' and 5' to 3'. We identified likely pathogenic variants in two genes involved in these two pathways in individuals with intellectual disability. In a large family with multiple branches, we identified biallelic variants in DCPS in three affected individuals; a splice site variant (c.636+1G>A) that results in an in-frame insertion of 45 nucleotides and a...

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Identifiers

PMID: 25701870
DOI: 10.1093/hmg/ddv069
PMCID: PMC4424955

Genes

DCPS
DCP2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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