Smith Magenis (FLI1)/Miller Dieker Combination LPU007

Smith-Magenis syndrome (SMS) is characterised by mental retardation, neuro-behavioural abnormalities, sleep disturbances, short stature, minor craniofacial and skeletal anomalies, congenital heart defects and renal anomalies. FLI1 and RAI1 have both been recognised as the candidate gene for the phenotype seen in SMS, they are located in the critical region (17p11.2) and deleted in SMS patients.

Miller-Dieker Syndrome (MDS) is characterised by classical lissencephaly, characteristic facial appearance and other birth defects. Isolated lissencephaly sequence (ILS) disorder consists of classical lissencephaly alone and in 40% of patients the same region is deleted. MDS patients always show deletions of the candidate gene LIS1 within the chromosome band 17p13.3. The Smith-Magenis probe acts as a control for Miller-Dieker and vice versa.