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          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents



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ID: 539476.0, MPI für molekulare Genetik / Research Group Development and Disease
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
Authors:Horn, D.; Kapeller, J.; Rivera-Brugues, N.; Moog, U.; Lorenz-Depiereux, B.; Eck, S.; Hempel, M.; Wagenstaller, J.; Gawthrope, A.; Monaco, A. P.; Bonin, M.; Riess, O.; Wohlleber, E.; Illig, T.; Bezzina, C. R.; Franke, A.; Spranger, S.; Villavicencio-Lorini, P.; Seifert, W.; Rosenfeld, J.; Klopocki, E.; Rappold, G. A.; Strom, T. M.
Language:English
Date of Publication (YYYY-MM-DD):2010-11-01
Title of Journal:Human Mutation
Journal Abbrev.:Hum Mutat
Volume:31
Issue / Number:11
Start Page:E1851
End Page:E1860
Copyright:© 2010 Wiley-Liss, Inc.
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Free Keywords:FOXP1;
mental retardation;
copy number variations;
language and speech deficits
Comment of the Author/Creator:Correspondence: Tim M. Strom, Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1,
85764 Neuherberg, Germany
External Publication Status:published
Document Type:Article
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Institute of Medical Genetics, Charité, University Medicine of Berlin, Berlin, Germany;
2.Department of Molecular Human Genetics, Ruprecht-Karls-University, Heidelberg, Germany;
3.Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany;
4.Institute of Human Genetics, Ruprecht-Karls-University, Heidelberg, Germany;
5.Institute of Human Genetics, Technische Universität München, Munich, Germany;
6.Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK;
7.Department of Medical Genetics, Institute of Human Genetics, University of Tübingen,Tübingen, Germany;
8.Institute of Human Genetics, Rheinische Friedrich-Wilhelms-University, Bonn, Germany;
9.Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany;
10.Heart Failure Research Center, Department of Experimental Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands;
11.Institute for Clinical Molecular Biology, Christian-Albrechts-University zu Kiel, Kiel, Germany;
12.Praxis für Humangenetik, Bremen, Germany;
13.Cologne Center for Genomics, Universität zu Köln, Cologne, Germany;
14.Faculty of Biology, Chemistry, and Pharmacy, Free University of Berlin, Berlin, Germany;
15.Department of Audiology and Phoniatrics, Charité, University Medicine of Berlin, Berlin, Germany.
Identifiers:ISSN:1059-7794 [ID No:1]
URL:http://www.ncbi.nlm.nih.gov/pubmed/20848658 [ID No:2]
DOI:10.1002/humu.21362 [ID No:3]
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