|
|
|
|
||||
Rett syndrome
Inheritance patterns and prenatal diagnosis
Inheritance patterns
The Rett disorder affects more than 1 in 10,000 females and probably far fewer males. Most cases are solitary (sporadic). A case of Rett syndrome is believed to be due to the development of a fresh dominant mutation in a germ cell of one parent. The individual who inherits the affected gene is almost invariably affected and at high risk to transmit the disorder to any offspring. Families should seek advice from the regional clinical genetic centre but can usually be reassured that recurrence is very unlikely. The cause of Rett syndrome is mutations of a gene, MECP2, on the X-chromosome. Another gene, CDKL5, on the X-chromosome causes a rare form of the syndrome which a clinical geneticist will bear in mind when advising families.
Prenatal diagnosis
Prenatal diagnosis is possible where the mutation has been identified in an individual family. However, the risk of recurrence is very low, although not zero, except in the rare situation where the mother carries the mutation, or either of the parents is mosaic for the mutation (either parent carrying the mutation in a small proportion of their own cells). The possibility of prenatal diagnosis is best investigated in advance of a pregnancy. Advice may be obtained from a regional genetics centre.
How is it diagnosed?
| Is there support? 
Donate Now
makingcontact.org
Pounds for parents
Subscribe to the 