-
Sleep: A New Cerebra Guide for Parents
A new guide for parents has been developed by researchers...
-
ASM 17 French Smith-Magenis Support Group Annual Conference
Lucy Wilde...
-
Smith Magenis Syndrome Awareness Month
November is Smith Magenis Awareness Month, and so parents and...
-
The Benefits of Communication Passports
Research has shown that many behaviours that challenge...
Genetics of Smith-Magenis Syndrome
After Smith-Magenis syndrome was first described it was subsequently associated with a de novo deletion on chromosome 17p11.2. A de novo deletion is a ‘new’ deletion that was not inherited from either parent.
More recently, individuals demonstrating features of Smith-Magenis syndrome caused by a mutation of the retinoic acid-induced 1 (RAI1) gene located on chromosome 17p11.2 have been described, leading researchers to suggest that this gene is implicated in most of the features of the syndrome. The mutation of gene RAI1 is responsible for less than 10% of cases.
Visit the Smith-Magenis Syndrome Foundation page to read more about genetics.