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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Author

Listed:
  • Hossein Najmabadi

    (Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
    Kariminejad-Najmabadi Pathology & Genetics Centre)

  • Hao Hu

    (Max Planck Institute for Molecular Genetics)

  • Masoud Garshasbi

    (Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
    Max Planck Institute for Molecular Genetics)

  • 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
    Max-Delbrueck-Centrum für Molekulare Medizin)

  • 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
    Max Planck Institute for Molecular Genetics)

  • 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
    University of Manitoba, Winnipeg)

  • 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
    Present address: Institute for Human Genetics, University Medicine Greifswald & Interfaculty Institute for Genetics and Functional Genomics, Ernst Moritz Arndt University, 17489 Greifswald, Germany.)

  • 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)

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.

Suggested Citation

  • Hossein Najmabadi & Hao Hu & Masoud Garshasbi & Tomasz Zemojtel & Seyedeh Sedigheh Abedini & Wei Chen & Masoumeh Hosseini & Farkhondeh Behjati & Stefan Haas & Payman Jamali & Agnes Zecha & Marzieh Moh, 2011. "Deep sequencing reveals 50 novel genes for recessive cognitive disorders," Nature, Nature, vol. 478(7367), pages 57-63, October.
  • Handle: RePEc:nat:nature:v:478:y:2011:i:7367:d:10.1038_nature10423
    DOI: 10.1038/nature10423
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    Cited by:

    1. Lei Shen & Xiaokuang Ma & Yuanyuan Wang & Zhihao Wang & Yi Zhang & Hoang Quoc Hai Pham & Xiaoqun Tao & Yuehua Cui & Jing Wei & Dimitri Lin & Tharindumala Abeywanada & Swanand Hardikar & Levon Halabeli, 2024. "Loss-of-function mutation in PRMT9 causes abnormal synapse development by dysregulation of RNA alternative splicing," Nature Communications, Nature, vol. 15(1), pages 1-20, December.

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