Horn, Denise, Kapeller, Johannes, Rivera-Brugues, Nria, Moog, Ute, Lorenz-Depiereux, Bettina, Eck, Sebastian, Hempel, Maja, Wagenstaller, Janine, Gawthrope, Alex, Monaco, Anthony P., Bonin, Michael, Riess, Olaf, Wohlleber, Eva, Illig, Thomas, Bezzina, Connie R., Franke, Andre ORCID: 0000-0003-1530-5811, Spranger, Stephanie, Villavicencio-Lorini, Pablo, Seifert, Wenke, Rosenfeld, Jochen, Klopocki, Eva ORCID: 0000-0003-1438-2081, Rappold, Gudrun A. and Strom, Tim M. (2010). Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits. Hum. Mutat., 31 (11). S. E1851 - 10. MALDEN: WILEY-BLACKWELL. ISSN 1059-7794

Full text not available from this repository.

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. (C) 2010 Wiley-Liss, Inc.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Horn, DeniseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kapeller, JohannesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rivera-Brugues, NriaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moog, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lorenz-Depiereux, BettinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eck, SebastianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hempel, MajaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wagenstaller, JanineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gawthrope, AlexUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Monaco, Anthony P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bonin, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Riess, OlafUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wohlleber, EvaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Illig, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bezzina, Connie R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Franke, AndreUNSPECIFIEDorcid.org/0000-0003-1530-5811UNSPECIFIED
Spranger, StephanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Villavicencio-Lorini, PabloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Seifert, WenkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rosenfeld, JochenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klopocki, EvaUNSPECIFIEDorcid.org/0000-0003-1438-2081UNSPECIFIED
Rappold, Gudrun A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Strom, Tim M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-493374
DOI: 10.1002/humu.21362
Journal or Publication Title: Hum. Mutat.
Volume: 31
Number: 11
Page Range: S. E1851 - 10
Date: 2010
Publisher: WILEY-BLACKWELL
Place of Publication: MALDEN
ISSN: 1059-7794
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
DEVELOPMENTAL VERBAL DYSPRAXIA; AUTISM SPECTRUM DISORDER; STRUCTURAL VARIATION; HUMAN GENOME; COPY-NUMBER; GENE; MUTATIONS; EXPRESSION; DISEASE; FAMILYMultiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/49337

Downloads

Downloads per month over past year

Altmetric

Export

Actions (login required)

View Item View Item