UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.

ABSTRACT:

Purpose

The human chromosome 19q13.11 deletion syndrome is associated with a variable phenotype that includes aplasia cutis congenita (ACC) and ectrodactyly as specific features. UBA2 (ubiquitin-like modifier-activating enzyme 2) lies adjacent to the minimal deletion overlap region. We aimed to define the UBA2-related phenotypic spectrum in humans and zebrafish due to sequence variants and to establish the mechanism of disease.

Methods

Exome sequencing was used to detect UBA2 sequence variants in 16 subjects in 7 unrelated families. uba2 loss of function was modeled in zebrafish. Effects of human missense variants were assessed in zebrafish rescue experiments.

Results

Seven human UBA2 loss-of-function and missense sequence variants were detected. UBA2-phenotypes inclu

SUBMITTER: Schnur RE 

PROVIDER: S-EPMC8463496 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature