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  A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3

Addis, L., Friederici, A. D., Kotz, S. A., Sabisch, B., Barry, J. G., Richter, N., et al. (2010). A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3. Genes, Brain and Behavior, 9(6), 545-561. doi:10.1111/j.1601-183X.2010.00583.x.

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 Creators:
Addis, Laura1, Author
Friederici, Angela D.2, Author           
Kotz, Sonja A.3, Author           
Sabisch, Beate2, Author           
Barry, Johanna G.2, Author           
Richter, N.4, Author
Ludwig, Alexandra4, Author
Rübsamen, Rudolf4, Author
Albert, F. W.5, Author
Pääbo, Svante5, Author
Newbury, D. F.1, Author
Monaco, Anthony P.1, Author
Affiliations:
1Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, United Kingdom, ou_persistent22              
2Department Neuropsychology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634551              
3Minerva Research Group Neurocognition of Rhythm in Communication, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634560              
4Institute of Biology II, University of Leipzig, Germany, ou_persistent22              
5Max-Planck Institute for Evolutionary Anthropology, Leipzig, Germany, ou_persistent22              

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Free keywords: Auditory processing deficit; chromosome 12; language impairment; late discrimination negativity; nonword repetition
 Abstract: Despite the apparent robustness of language learning in humans, a large number of children still fail to develop appropriate language skills despite adequate means and opportunity. Most cases of language impairment have a complex etiology, with genetic and environmental influences. In contrast, we describe a three-generation German family who present with an apparently simple segregation of language impairment. Investigations of the family indicate auditory processing difficulties as a core deficit. Affected members performed poorly on a nonword repetition task and present with communication impairments. The brain activation pattern for syllable duration as measured by event-related brain potentials showed clear differences between affected family members and controls, with only affected members displaying a late discrimination negativity. In conjunction with psychoacoustic data showing deficiencies in auditory duration discrimination, the present results indicate increased processing demands in discriminating syllables of different duration. This, we argue, forms the cognitive basis of the observed language impairment in this family. Genome-wide linkage analysis showed a haplotype in the central region of chromosome 12 which reaches the maximum possible logarithm of odds ratio (LOD) score and fully co-segregates with the language impairment, consistent with an autosomal dominant, fully penetrant mode of inheritance. Whole genome analysis yielded no novel inherited copy number variants strengthening the case for a simple inheritance pattern. Several genes in this region of chromosome 12 which are potentially implicated in language impairment did not contain polymorphisms likely to be the causative mutation, which is as yet unknown. © 2010 Blackwell Publishing Ltd/International Behavioural and Neural Genetics Society.

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Language(s): eng - English
 Dates: 2009-10-082010-03-222010-08-022010
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 512149
DOI: 10.1111/j.1601-183X.2010.00583.x
PMC: PMC2948670
PMID: 20345892
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Project name : -
Grant ID : 076566/Z/05/Z
Funding program : -
Funding organization : Wellcome Trust Grant
Project name : -
Grant ID : 075491
Funding program : -
Funding organization : Wellcome Trust core award grant
Project name : -
Grant ID : -
Funding program : Medical Research Council Ph.D Studentship
Funding organization : Medical Research Council (MRC)
Project name : -
Grant ID : T278/10824/2001
Funding program : -
Funding organization : Schram Foundation

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Title: Genes, Brain and Behavior
Source Genre: Journal
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Publ. Info: Oxford : Blackwell Munksgaard
Pages: - Volume / Issue: 9 (6) Sequence Number: - Start / End Page: 545 - 561 Identifier: ISSN: 1601-1848
CoNE: https://pure.mpg.de/cone/journals/resource/111006469467402