IVD 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.

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