Exome sequencing of patients with syndromic tall stature reveals four novel candidate genes.

ABSTRACT: This study aimed to evaluate a cohort of patients with syndromic tall stature of unknown etiology via exome sequencing (ES) to identify novel candidate genes for overgrowth conditions. We enrolled 37 patients with heights greater than the 97.7th percentile and syndromic features. The ES analysis first focused on rare deleterious single nucleotide and copy number variants in genes previously associated with overgrowth conditions. For patients in whom diagnosis of a known tall stature disorder could not be achieved, we performed analysis for candidate genes. The search considered deleterious variants in constrained genes that were linked with height in association studies, animal models consistent with the proposed phenotype, and/or variants recurrent in the literature or our cohort. Genetic

SUBMITTER: Kim GJ 

PROVIDER: S-EPMC12268985 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature