Children’s Nutrition Research Center Staff Publications

Language

English

Publication Date

2-1-2024

Journal

American Journal of Medical Genetics Part A

DOI

10.1002/ajmg.a.63396

PMID

37768187

PMCID

PMC11911005

PubMedCentral® Posted Date

3-16-2025

PubMedCentral® Full Text Version

Author MSS

Abstract

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 age contributes to the risk of the development of RTT. Clinical data including parental age, RTT diagnostic status, and clinical severity are collected from 1226 participants with RTT and confirmed MECP2 variants. Statistical analyses are performed using Student t-test, single factor analysis of variance (ANOVA), and multi-factor regression. No significant difference is observed in parental ages of RTT probands compared to that of the general population. A small increase in parental ages is observed in participants with missense variants compared to those with nonsense variants. When we evaluate the association between clinical severity and parental ages by multiple regression analysis, there is no clear association between clinical severity and parental ages. Advanced parental ages do not appear to be a risk factor for RTT, and do not contribute to the clinical severity in individuals with RTT.

Keywords

Humans, Rett Syndrome, Mutation, Methyl-CpG-Binding Protein 2, Chromosomes, Human, X, Parents, clinical severity, MECP2, parental age, RETT syndrome, risk factor

Published Open-Access

yes

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