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  Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

Horn, D., Kapeller, J., Rivera-Brugues, N., Moog, U., Lorenz-Depiereux, B., Eck, S., et al. (2010). Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Human Mutation, 31(11), E1851-E1860. doi:10.1002/humu.21362.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-79FE-E Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-79FF-C
Genre: Journal Article
Alternative Title : Hum Mutat

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 Creators:
Horn, D., Author
Kapeller, J., Author
Rivera-Brugues, N., Author
Moog, U., Author
Lorenz-Depiereux, B., Author
Eck, S., Author
Hempel, M., Author
Wagenstaller, J., Author
Gawthrope, A., Author
Monaco, A. P., Author
Bonin, M., Author
Riess, O., Author
Wohlleber, E., Author
Illig, T., Author
Bezzina, C. R., Author
Franke, A., Author
Spranger, S., Author
Villavicencio-Lorini, P.1, Author              
Seifert, W., Author
Rosenfeld, J., Author
Klopocki, E.1, Author              Rappold, G. A., AuthorStrom, T. M., Author more..
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: FOXP1; mental retardation; copy number variations; language and speech deficits
 Abstract: Mental retardation affects 2-3% of the population and shows a high heritability.Neurodevelopmental disorders that include pronounced impairment in language and speech skills occur less frequently. For most cases, the molecular basis of mental retardation with or without speech and language disorder is unknown due to the heterogeneity of underlying genetic factors.We have used molecular karyotyping on 1523 patients with mental retardation to detect copy number variations (CNVs) including deletions or duplications. These studies revealed three heterozygous overlapping deletions solely affecting the forkhead box P1 (FOXP1) gene. All three patients had moderate mental retardation and significant language and speech deficits. Since our results are consistent with a de novo occurrence of these deletions, we considered them as causal although we detected a single large deletion including FOXP1 and additional genes in 4104 ancestrally matched controls. These findings are of interest with regard to the structural and functional relationship between FOXP1 and FOXP2. Mutations in FOXP2 have been previously related to monogenic cases of developmental verbal dyspraxia. Both FOXP1 and FOXP2 are expressed in songbird and human brain regions that are important for the developmental processes that culminate in speech and language.

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Language(s): eng - English
 Dates: 2010-11-01
 Publication Status: Published in print
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Title: Human Mutation
  Alternative Title : Hum Mutat
Source Genre: Journal
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Pages: - Volume / Issue: 31 (11) Sequence Number: - Start / End Page: E1851 - E1860 Identifier: ISSN: 1059-7794