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.
| Last modified: | 13 March 2020 01.14 a.m. |
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