RUO - PAFAH1B1 / 17p11
The Miller-Dieker lissencephaly syndrome appears to be caused by deletion of several genes on 17p including the PAFAH1B1 (previously known as LIS1) gene.About 15% of patients with isolated lissencephaly and more than 90% of patients with Miller-Dieker syndrome have microdeletions in a critical 350-kb region at 17p13.3. Smith-Magenis is caused by a deletion of 17p11.2. The RAI1 (previously known as SMCR, KIAA1820 or SMS) gene region has been identified to be deleted in more than 90% of Smith-Magenis syndrome patients. The Miller-Dieker PAFAH1B1 region probe is optimized to detect copy numbers of the PAFAH1B1 region at 17p13. The Smith-Magenis RAI1 region probe is optimized to detect copy numbers of the RAI1 gene region at 17p11.
Kuwano et al, 1991, Am. J. Hum. Genet., 49; 707-714.
Cardoso et al, 2003, Am. J. Hum. Genet., 72; 918-930.
Smith et al, 1986, Am. J. Med. Genet., 24; 393-414.
Greenberg et al, 1991, Am. J. Med. Genet., 49; 1207-1218.
Vlangos et al, 2005, Am. J. Med. Genet., 132; 278-282.