November 18, 2019
Rett syndrome is a neurodevelopmental disorder, typically caused by a spontaneous genetic mutation in the MECP2 gene. A number of different mutations to this gene can cause the condition, which almost exclusively affects girls, although affected males tend to have worse outcomes.
Researchers from the national Centre for Neurology and Psychiatry have now discovered 10 new mutations of the MECP2 gene that can cause the condition. This gene encodes a protein that helps to regulate other genes and is essential for the normal function of the nerve cells. The team genetically tested 49 patients with Rett syndrome and discovered 10 female patients had insertion/deletion variants in the MECP2 gene that had never before been recorded and were found in areas not previously thought to be deletion-prone areas of the MECP2.
The location of the mutation on the MECP2 gene appears to affect patient symptoms and outcomes, but more work is needed. These new genetic variants, along with some 900 other known variants of the MECP2 gene may allow future research to find links between particular genetic variants and clinical symptoms of Rett patients.
Source: Rett Syndrome News
Read more: http://ow.ly/uT9550xctJM
