Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.

ABSTRACT:

Objectives/aims

The visceral myopathies (VM) are a group of disorders characterised by poorly contractile or acontractile smooth muscle. They manifest in both the GI and GU tracts, ranging from megacystis to Prune Belly syndrome. We aimed to apply a bespoke virtual genetic panel and describe novel variants associated with this condition using whole genome sequencing data within the Genomics England 100,000 Genomes Project.

Methods

We screened the Genomics England 100,000 Genomes Project rare diseases database for patients with VM-related phenotypes. These patients were screened for sequence variants and copy number variants (CNV) in ACTG2, ACTA2, MYH11, MYLK, LMOD1, CHRM3, MYL9, FLNA and KNCMA1 by analysing whole

SUBMITTER: Geraghty RM 

PROVIDER: S-EPMC10241726 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature