Publication: Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems
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Vulto-van Silfhout, A. T., Rajamanickam, S., Jensik, P. J., Vergult, S., de Rocker, N., Newhall, K. J., Raghavan, R., Reardon, S. N., Jarrett, K., McIntyre, T., Bulinski, J., Ownby, S. L., Huggenvik, J. I., McKnight, G. S., Rose, G. M., Cai, X., Willaert, A., Zweier, C., Endele, S., … de Vries, B. B. A. (2014). Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. American Journal of Human Genetics, 94(5), 649–661. https://doi.org/10.1016/j.ajhg.2014.03.013
Abstract
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Abstract
Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and identified two additional individuals with de novo mutations in this gene. All four individuals had severe ID with severely affected speech
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Creators (Authors)
- Vulto-van Silfhout, Anneke T
- Rajamanickam, Shivakumar
- Jensik, Philip J
- Vergult, Sarah
- de Rocker, Nina
- Newhall, Kathryn J
- Raghavan, Ramya
- Reardon, Sara N
- Jarrett, Kelsey
- McIntyre, Tara
- Bulinski, Joseph
- Ownby, Stacy L
- Huggenvik, Jodi I
- McKnight, G Stanley
- Rose, Gregory M
- Cai, Xiang
- Willaert, Andy
- Zweier, Christiane
- Endele, Sabine
- de Ligt, Joep
- van Bon, Bregje W M
- Lugtenberg, Dorien
- de Vries, Petra F
- Veltman, Joris A
- van Bokhoven, Hans
- Brunner, Han G
- Rauch, Anita
- de Brouwer, Arjan P M
- Carvill, Gemma L
- Hoischen, Alexander
- Mefford, Heather C
- Eichler, Evan E
- Vissers, Lisenka E L M
- Menten, Björn
- Collard, Michael W
- de Vries, Bert B A
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Citations
Vulto-van Silfhout, A. T., Rajamanickam, S., Jensik, P. J., Vergult, S., de Rocker, N., Newhall, K. J., Raghavan, R., Reardon, S. N., Jarrett, K., McIntyre, T., Bulinski, J., Ownby, S. L., Huggenvik, J. I., McKnight, G. S., Rose, G. M., Cai, X., Willaert, A., Zweier, C., Endele, S., … de Vries, B. B. A. (2014). Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. American Journal of Human Genetics, 94(5), 649–661. https://doi.org/10.1016/j.ajhg.2014.03.013
