Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis.

ABSTRACT:

Importance

Postzygotic mutations in the GNAQ/GNA11 genes, which encode the G-protein nucleotide binding protein alpha subunits, have been identified in patients with phakomatosis pigmentovascularis (PPV). However, little is known about the Chinese population.

Objective

To identify pathogenic mutations in pediatric patients with PPV within the Chinese population.

Methods

We performed whole-exome sequencing (WES) using skin lesion tissues from pediatric patients diagnosed with PPV. Additionally, ultradeep-targeted sequencing was conducted to validate the somatic mutations. A genotype-phenotype correlation was analyzed by integrating data from previous reports with the findings of the present study.

Results

Thirteen patients were enrolled, all diagnosed wit

SUBMITTER: Zhang B 

PROVIDER: S-EPMC11193378 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature