Article
Parental age effects and Rett syndrome.
American journal of medical genetics. Part A - 1 Feb 2024
Fang Xiaolan, Baggett Lauren M, Caylor Raymond C, Percy Alan K, Neul Jeffrey L, Lane Jane B, Glaze Daniel G, Benke Tim A, Marsh Eric D, Motil Kathleen J, Barrish Judy O, Annese Fran E, Skinner Steven A
Abstract excerpt
Rett syndrome (RTT) is a progressive neurodevelopmental disorder, and pathogenic Methyl-CpG-binding Protein 2 (MECP2) variants are identified in >95% of individuals with typical RTT. Most of RTT-causing variants in MECP2 are de novo and usually on the paternally inherited X chromosome. While paternal age has been reported to be associated with increased risk of genetic disorders, it is unknown whether parental...
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