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  A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

Zanni, G., Kalscheuer, V. M., Friedrich, A., Barresi, S., Alfieri, P., Di Capua, M., et al. (2015). A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. Human Mutation, 36(12), 1155-1158. doi:10.1002/humu.22860.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-002A-3548-1 Version Permalink: http://hdl.handle.net/21.11116/0000-0000-D04A-2
Genre: Journal Article

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© 2015 John Wiley & Sons, Inc.
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 Creators:
Zanni, G., Author
Kalscheuer, V. M.1, Author              
Friedrich, A., Author
Barresi, S., Author
Alfieri, P., Author
Di Capua, M., Author
Haas, S. A.2, Author              
Piccini, G., Author
Karl, T., Author
Klauck, S. M., Author
Bellacchio, E., Author
Emma, F., Author
Cappa, M., Author
Bertini, E., Author
Breitenbach-Koller, L., Author
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              
2Gene Structure and Array Design (Stefan Haas), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479640              

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Free keywords: Rpl10 Xlid cerebellar hypoplasia spondylo-epiphyseal dysplasia uL16
 Abstract: 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 spondylo-epiphyseal dysplasia (SED). We assessed the impact of the mutation on the translational capacity of the cell using yeast as model system. The mutation generates a functional ribosomal protein, able to complement the translational defects of a conditional lethal mutation of yeast rpl10. However, unlike previously reported mutations, this novel RPL10 missense mutation results in an increase in the actively translating ribosome population. Our results expand the mutational and clinical spectrum of RPL10 identifying a new genetic cause of SED and highlight the emerging role of ribosomal proteins in the pathogenesis of neurodevelopmental disorders.

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Language(s): eng - English
 Dates: 2015-09-152015-12
 Publication Status: Published in print
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 Identifiers: DOI: 10.1002/humu.22860
ISSN: 1098-1004 (Electronic)1059-7794 (Print)
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Title: Human Mutation
Source Genre: Journal
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Publ. Info: Hoboken, NJ : John Wiley & Sons, Inc.
Pages: - Volume / Issue: 36 (12) Sequence Number: - Start / End Page: 1155 - 1158 Identifier: -