KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

ABSTRACT:

Purpose

Pathogenic variants in KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A variants has rapidly expanded and the full extent and variability of the clinical phenotype has not been reported.

Methods

We obtained data for patients with KAT6A pathogenic variants through three sources: treating clinicians, an online family survey distributed through social media, and a literature review.

Results

We identified 52 unreported cases, bringing the total number of published cases to 76. Our results expand the genotypic spectrum of pathogenic variants to include missense and splicing mutations. We functionally validated a pathogenic splice-site variant and identified a lik

SUBMITTER: Kennedy J 

PROVIDER: S-EPMC6634310 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature