Aberrant splicing caused by a novel KMT2A variant in Wiedemann-Steiner syndrome.

ABSTRACT:

Introduction

Wiedemann-Steiner syndrome (WSS) is a rare autosomal-dominant disorder caused by KMT2A variants. The aim of this study was to characterize a novel KMT2A variant in a child with WSS and demonstrate integrated diagnostic approaches.

Methods

A 3-year-old female with developmental delay, distinctive facial features, and anal fistula underwent whole exome sequencing (WES). RNA analysis was performed to assess splicing effects caused by a novel variant.

Results

WES identified novel heterozygous KMT2A c.5664+6T>C variant initially classified as a variant of uncertain significance. RNA analysis provided evidence of aberrant splicing (exon 20 skipping), allowing reclassification to likely pathogenic. The patient exhibited typical WSS features along with a potentia

SUBMITTER: Niu J 

PROVIDER: S-EPMC10941593 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature