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  Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., et al. (2011). Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature, 478(7367), 57-63. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21937992 http://www.nature.com/nature/journal/v478/n7367/pdf/nature10423.pdf.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7912-D Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7913-B
Genre: Journal Article

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Najmabadi, H., Author
Hu, H.1, Author              
Garshasbi, M.1, Author              
Zemojtel, T.2, Author              
Abedini, S. S., Author
Chen, W.1, Author              
Hosseini, M., Author
Behjati, F., Author
Haas, S.3, Author              
Jamali, P., Author
Zecha, A.4, Author              
Mohseni, M., Author
Puttmann, L.4, Author              
Vahid, L. N., Author
Jensen, C., Author
Moheb, L. A., Author
Bienek, M.1, Author              
Larti, F., Author
Mueller, I.5, Author              
Weissmann, R.6, Author              
Darvish, H., AuthorWrogemann, K., AuthorHadavi, V., AuthorLipkowitz, B.4, Author              Esmaeeli-Nieh, S.1, Author              Wieczorek, D., AuthorKariminejad, R., AuthorFirouzabadi, S. G., AuthorCohen, M., AuthorFattahi, Z., AuthorRost, I., AuthorMojahedi, F., AuthorHertzberg, C., AuthorDehghan, A., AuthorRajab, A., AuthorBanavandi, M. J., AuthorHoffer, J., AuthorFalah, M., AuthorMusante, L.4, Author              Kalscheuer, V.7, Author              Ullmann, R.5, Author              Kuss, A. W.4, Author              Tzschach, A.1, Author              Kahrizi, K., AuthorRopers, H. H.1, Author               more..
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433547              
3Gene Structure and Array Design (Stefan Haas), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479640              
4Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              
5Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
6Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433554              
7Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: Brain/metabolism/physiology; Cell Cycle; Cognition Disorders/*genetics; Consanguinity; DNA Mutational Analysis; Exons/genetics; Gene Regulatory Networks; Genes, Essential/genetics; Genes, Recessive/*genetics; *High-Throughput Nucleotide Sequencing; Homozygote; Humans; Intellectual Disability/*genetics; Metabolic Networks and Pathways; Mutation/genetics; Organ Specificity; Synapses/metabolism
 Abstract: Common diseases are often complex because they are genetically heterogeneous, with many different genetic defects giving rise to clinically indistinguishable phenotypes. This has been amply documented for early-onset cognitive impairment, or intellectual disability, one of the most complex disorders known and a very important health care problem worldwide. More than 90 different gene defects have been identified for X-chromosome-linked intellectual disability alone, but research into the more frequent autosomal forms of intellectual disability is still in its infancy. To expedite the molecular elucidation of autosomal-recessive intellectual disability, we have now performed homozygosity mapping, exon enrichment and next-generation sequencing in 136 consanguineous families with autosomal-recessive intellectual disability from Iran and elsewhere. This study, the largest published so far, has revealed additional mutations in 23 genes previously implicated in intellectual disability or related neurological disorders, as well as single, probably disease-causing variants in 50 novel candidate genes. Proteins encoded by several of these genes interact directly with products of known intellectual disability genes, and many are involved in fundamental cellular processes such as transcription and translation, cell-cycle control, energy metabolism and fatty-acid synthesis, which seem to be pivotal for normal brain development and function.

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 Dates: 2011
 Publication Status: Published in print
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Title: Nature
Source Genre: Journal
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Pages: - Volume / Issue: 478 (7367) Sequence Number: - Start / End Page: 57 - 63 Identifier: ISSN: 1476-4687 (Electronic) 0028-0836 (Linking)