Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

doi:10.1038/nature10423

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Article

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Nature - 21 Sept 2011

Najmabadi Hossein, Hu Hao, Garshasbi Masoud, Zemojtel Tomasz, Abedini Seyedeh Sedigheh, Chen Wei, Hosseini Masoumeh, Behjati Farkhondeh, Haas Stefan, Jamali Payman, Zecha Agnes, Mohseni Marzieh, Püttmann Lucia, Vahid Leyla Nouri, Jensen Corinna, Moheb Lia Abbasi, Bienek Melanie, Larti Farzaneh, Mueller Ines, Weissmann Robert, Darvish Hossein, Wrogemann Klaus, Hadavi Valeh, Lipkowitz Bettina, Esmaeeli-Nieh Sahar, Wieczorek Dagmar, Kariminejad Roxana, Firouzabadi Saghar Ghasemi, Cohen Monika, Fattahi Zohreh, Rost Imma, Mojahedi Faezeh, Hertzberg Christoph, Dehghan Atefeh, Rajab Anna, Banavandi Mohammad Javad Soltani, Hoffer Julia, Falah Masoumeh, Musante Luciana, Kalscheuer Vera, Ullmann Reinhard, Kuss Andreas Walter, Tzschach Andreas, Kahrizi Kimia, Ropers H Hilger

Abstract excerpt

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...

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PMID: 21937992
DOI: 10.1038/nature10423

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