| Autor: |
de Ligt, Joep, Willemsen, Marjolein H., Bon, Bregje W. M. van, Kleefstra, Tjitske, Yntema, Helger G., Kroes, Thessa, Silfhout, Anneke T. Vulto-van, Koolen, David A., de Vries, Petra, Gilissen, Christian, del Rosario, Marisol, Hoischen, Alexander, Scheffer, Hans, Vries, Bert B. A. de, Brunner, Han G., Veltman, Joris A., Vissers, Lisenka E. L. M. |
| Zdroj: |
Obstetrical and Gynecological Survey; March 2013, Vol. 68 Issue: 3 p191-193, 3p |
| Abstrakt: |
Severe intellectual disability (IQ <50) affects about 0.5 of the population in Western countries and carries a high health burden. In developed countries, most severe forms of intellectual disability are thought to have a genetic cause, but the cause is still unknown in 55 to 60 of patients. A diagnosis and understanding of a genetic cause may offer information on the prognosis, preclude further unnecessary invasive testing, and lead to appropriate access to medical and supportive care. De novo point mutations in more than 1000 different genes may cause intellectual disability. This study was undertaken to assess the role of de novo as well as X-linked and autosomal recessive inherited mutations in 100 patients with unexplained intellectual disability, using a family-based exome-sequencing approach. These individuals had prior extensive clinical and genetic evaluation, but no definitive etiologic diagnosis was possible. They had exhausted current diagnostic strategies, a common situation for patients with severe intellectual disability. |
| Databáze: |
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