Article
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
Human mutation - 1 Dec 2015
Zanni Ginevra, Kalscheuer Vera M, Friedrich Andreas, Barresi Sabina, Alfieri Paolo, Di Capua Matteo, Haas Stefan A, Piccini Giorgia, Karl Thomas, Klauck Sabine M, Bellacchio Emanuele, Emma Francesco, Cappa Marco, Bertini Enrico, Breitenbach-Koller Lore
Abstract excerpt
RPL10 encodes ribosomal protein L10 (uL16), a highly conserved multifunctional component of the large ribosomal subunit, involved in ribosome biogenesis and function. Using X-exome resequencing, we identified a novel missense mutation (c.191C>T; p.(A64V)) in the N-terminal domain of the protein, in a family with two affected cousins presenting with X-linked intellectual disability, cerebellar hypoplasia, and...
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