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  A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay

Santos-Reboucas, C. B., Fintelman-Rodrigues, N., Jensen, L. R., Kuss, A. W., Ribeiro, M. G., Campos, M., et al. (2011). A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay. Neurosci Lett, 498(1), 67-71. doi:10.1016/j.neulet.2011.04.065.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-793C-4 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-793E-F
Genre: Journal Article

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Santos-Reboucas, C. B., Author
Fintelman-Rodrigues, N., Author
Jensen, L. R.1, Author              
Kuss, A. W.2, Author              
Ribeiro, M. G., Author
Campos, M., Author
Santos, J. M., Author
Pimentel, M. M., Author
Affiliations:
1Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              

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Free keywords: Adolescent; Body Height/*genetics; Brazil; Female; Humans; Language Development Disorders/*genetics; Male; Mental Retardation, X-Linked/*genetics; *Mutation, Missense; Oxidoreductases, N-Demethylating/*genetics; Pedigree; Phenotype; Reverse Transcriptase Polymerase Chain Reaction
 Abstract: Mutations in the Jumonji AT-rich interactive domain 1C (JARID1C/SMCX/KDM5C) gene, located at Xp11.22, are emerging as frequent causes of X-linked intellectual disability (XLID). KDM5C encodes for a member of an ARID protein family that harbors conserved DNA-binding motifs and acts as a histone H3 lysine 4 demethylase, suggesting a potential role in epigenetic regulation during development, cell growth and differentiation. In this study, we describe clinical and genetic findings of a Brazilian family co-segregating a novel nonsense mutation (c.2172C>A) in exon 15 of KDM5C gene with the intellectual disability phenotype. The transition resulted in replacement of the normal cysteine by a premature termination codon at position 724 of the protein (p.Cys724X), leading to reduced levels of KDM5C transcript probably due to nonsense mediated mRNA decay. The clinical phenotype of the proband, who has two affected brothers and a mild cognitively impaired mother, consisted of short stature, speech delay, hyperactivity, violent behavior and high palate, besides severe mental retardation. Our findings extend the number of KDM5C mutations implicated in XLID and highlight its promise for understanding neural function and unexplained cases of XLID.

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 Dates: 2011
 Publication Status: Published in print
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Title: Neurosci Lett
Source Genre: Journal
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Pages: - Volume / Issue: 498 (1) Sequence Number: - Start / End Page: 67 - 71 Identifier: ISSN: 1872-7972 (Electronic) 0304-3940 (Print)