Genetics of L1 syndrome

PhD ceremony: Ms. Y.J. Vos, 14.45 uur, Academiegebouw, Broerstraat 5, Groningen

Thesis: Genetics of L1 syndrome

Promotor(s): prof. R.M.W. Hofstra

Faculty: Medical Sciences

L1 syndrome is an X-linked recessive disorder with a prevalence of 1:30,000 newborn males. It comprises four neurological syndromes, all associated with mutations in the L1CAM gene. The most severe of the four different forms is known as X-linked hydrocephalus.

Our research, focused on the detection of mutations in the L1CAM gene, shows that only 20% of all affected children (mostly boys) harbor a mutation in this gene, although in specifically selected target groups this percentage is as high as 85 %. These results will be of great help to predict the actual chance to find a mutation in a patient.