Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report

Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the gene, which is located on the X chromosom...

Full description

Saved in:
Bibliographic Details
Published in:Iranian journal of medical sciences 2019-07, Vol.44 (4), p.347-353
Main Authors: Candelo, Estephania, Ramirez-Montaño, Diana, Pachajoa, Harry
Format: Article
Language:English
Subjects:
Anopheles
Autism
Case Reports
Cytogenetics
Disabilities
Disease susceptibility
Diseases
DNA
DNA copy number variations
Epilepsy
Exome sequencing
Gene mutation
Genes
Genetic aspects
Hyperactivity
Mutation
Rett syndrome
X chromosomes
X-linked genetic disease
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations, and other gene mutations. A 12-year-old female Colombian patient was presented with refractory epilepsy and regression in skill acquisition (especially language with motor and verbal stereotypies, hyperactivity, and autistic spectrum disorder criteria). The patient was born to non-consanguineous parents and had an early normal development until the age of 36 months. Comparative genomic hybridization array-CGH (750K) was performed and Xp22.31 duplication was detected (6866889-8115153) with a size of 1.248 Mb associated with developmental delay, epilepsy, and autistic traits. Given the clinical criteria of RS, sequencing was performed which showed a de novo pathogenic variant c.338C>G (p.Pro113Arg). The features of RS include intellectual disability, developmental delay, and autism. These features are associated with copy number variations (CNVs) on the X chromosome (Xp22.31 microduplication). Here we present the first reported case of simultaneous CNV and pathogenic mutation in a patient with RS. We propose that both DNA alterations might have a synergistic effect and could lead to variable expressivity of the phenotype.
ISSN:0253-0716
1735-3688
DOI:10.30476/IJMS.2019.44945