Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.

ABSTRACT:

Background

Somatic mutations of cancer driver genes are found to be responsible for vascular malformations with clinical manifestations ranging from cutaneous birthmarks to life-threatening systemic anomalies. Till now, only a limited number of cases and mutations were reported in Chinese population. The purpose of this study was to describe the somatic mutation spectrum of a cohort of Chinese pediatrics with vascular malformations.

Methods

Pediatrics diagnosed with various vascular malformations were collected between May 2019 and October 2020 from Beijing Children's Hospital. Genomic DNA of skin lesion of each patient was extracted and sequenced by whole-exome sequencing to identify pathogenic somatic mutations. Mutations with variant allele frequency less than 5% were val

SUBMITTER: Zhang B 

PROVIDER: S-EPMC10474751 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature