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

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...

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Publicado no:Hum Mol Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4424955/
https://ncbi.nlm.nih.gov/pubmed/25701870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv069
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