Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi, Hao Hu, Masoud Garshasbi, Tomasz Zemojtel, Seyedeh Sedigheh Abedini, Wei Chen, Masoumeh Hosseini, Farkhondeh Behjati, Stefan Haas, Payman Jamali, Agnes Zecha, Marzieh Mohseni, Lucia Püttmann, Leyla Nouri Vahid, Corinna Jensen, Lia Abbasi Moheb, Melanie Bienek, Farzaneh Larti, Ines Mueller, Robert Weissmann, Hossein Darvish, Klaus Wrogemann, Valeh Hadavi, Bettina Lipkowitz, Sahar Esmaeeli-Nieh, Dagmar Wieczorek, Roxana Kariminejad, Saghar Ghasemi Firouzabadi, Monika Cohen, Zohreh Fattahi, Imma Rost, Faezeh Mojahedi, Christoph Hertzberg, Atefeh Dehghan, Anna Rajab, Mohammad Javad Soltani Banavandi, Julia Hoffer, Masoumeh Falah, Luciana Musante, Vera Kalscheuer, Reinhard Ullmann, Andreas Walter Kuss, Andreas Tzschach, Kimia Kahrizi () and H. Hilger Ropers ()
Additional contact information
Hossein Najmabadi: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Hao Hu: Max Planck Institute for Molecular Genetics
Masoud Garshasbi: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Tomasz Zemojtel: Max Planck Institute for Molecular Genetics
Seyedeh Sedigheh Abedini: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Wei Chen: Max Planck Institute for Molecular Genetics
Masoumeh Hosseini: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Farkhondeh Behjati: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Stefan Haas: Max Planck Institute for Molecular Genetics
Payman Jamali: Shahroud Welfare Organization
Agnes Zecha: Max Planck Institute for Molecular Genetics
Marzieh Mohseni: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Lucia Püttmann: Max Planck Institute for Molecular Genetics
Leyla Nouri Vahid: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Corinna Jensen: Max Planck Institute for Molecular Genetics
Lia Abbasi Moheb: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Melanie Bienek: Max Planck Institute for Molecular Genetics
Farzaneh Larti: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Ines Mueller: Max Planck Institute for Molecular Genetics
Robert Weissmann: Max Planck Institute for Molecular Genetics
Hossein Darvish: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Klaus Wrogemann: Max Planck Institute for Molecular Genetics
Valeh Hadavi: Kariminejad-Najmabadi Pathology & Genetics Centre
Bettina Lipkowitz: Max Planck Institute for Molecular Genetics
Sahar Esmaeeli-Nieh: Max Planck Institute for Molecular Genetics
Dagmar Wieczorek: Institut fuer Humangenetik, Universitaetsklinikum
Roxana Kariminejad: Kariminejad-Najmabadi Pathology & Genetics Centre
Saghar Ghasemi Firouzabadi: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Monika Cohen: Kinderzentrum Muenchen
Zohreh Fattahi: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Imma Rost: Zentrum fuer Humangenetik und Laboratoriumsmedizin Dr Klein und Dr Rost
Faezeh Mojahedi: Mashhad Medical Genetic Counseling Center
Christoph Hertzberg: Kinderneurologie und Sozialpaediatrie, Vivantes-Klinikum Neukölln
Atefeh Dehghan: Yazd Welfare Organization
Anna Rajab: Genetics Unit, Ministry of Health, Directorate General of Health Affairs, Royal Hospital
Mohammad Javad Soltani Banavandi: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Julia Hoffer: Max Planck Institute for Molecular Genetics
Masoumeh Falah: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Luciana Musante: Max Planck Institute for Molecular Genetics
Vera Kalscheuer: Max Planck Institute for Molecular Genetics
Reinhard Ullmann: Max Planck Institute for Molecular Genetics
Andreas Walter Kuss: Max Planck Institute for Molecular Genetics
Andreas Tzschach: Max Planck Institute for Molecular Genetics
Kimia Kahrizi: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
H. Hilger Ropers: Max Planck Institute for Molecular Genetics

Nature, 2011, vol. 478, issue 7367, 57-63

Abstract: 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.

Date: 2011
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DOI: 10.1038/nature10423

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