Genomic insights into Rett syndrome-like features in Bangladeshi participants.

ABSTRACT:

Purpose

Rett syndrome (RTT) is a neurological disorder marked by the loss of developmental milestones. Classic RTT involves variants in the methyl-CpG-binding protein 2 (MECP2) gene. Our study examines the genetic basis of typical and atypical RTT, along with RTT-like phenotypes, using MECP2-targeted sequencing (TS) and exome sequencing (ES).

Methods

MECP2 sequencing was conducted on 27 Bangladeshi female participants with RTT features. ES was subsequently conducted on the 13 participants who tested negative for MECP2 variants. Data were processed using the Genome Analysis Toolkit and American College of Medical Genetics and Genomics-guided pathogenicity analysis was conducted with ANNOVAR and GenomeArc Horizon. Copy-number variation analysis was

SUBMITTER: Akter H 

PROVIDER: S-EPMC12266481 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature