Article
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?
Clinical genetics - 1 Dec 2012
Zhang J, Bao X, Cao G, Jiang S, Zhu X, Lu H, Jia L, Pan H, Fehr S, Davis M, Leonard H, Ravine D, Wu X
Abstract excerpt
The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study were to provide a precise estimate of the parental origin of MECP2 mutations using a large Chinese sample and to assess whether parental origin varied by mutation type. The parental origin was paternal in 84/88 [95.5%, (95% confidence interval 88.77-98.75)] of...
Topics
- Asian People
- Base Sequence
- DNA Primers
- Female
- Humans
- Inheritance Patterns
- Male
- Methyl-CpG-Binding Protein 2
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction