Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.

ABSTRACT:

Background

Congenital smooth muscle hamartomas (CSMHs) are benign lesions that share clinical and histopathological features with Becker nevus, a mosaic disorder associated with post-zygotic ACTB mutations. Given the clinical and histopathological overlap between CSMH and Becker nevus, we hypothesized that post-zygotic mutations in ACTB may underlie CSMH.

Methods

Direct sequencing of ACTB gene in affected and unaffected tissue isolated from one case of hemihypertrichosis and hemihypertrophy corresponding to giant segmental CSMH and hemihypertrophy. This was followed by direct sequencing with and without enrichment assay for hotspot ACTB mutations in affected tissue from 12 samples of isolated CSMH from unrelated individuals.

Results

In total we identified somatic miss

SUBMITTER: Atzmony L 

PROVIDER: S-EPMC7943230 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature