Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.

ABSTRACT:

Objective

Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multigene analysis in children classified as ISS.

Design and methods

We selected 102 children with ISS and performed the genetic analysis as part of the initial investigation. We developed customized targeted panel sequencing, including all genes already implicated in the isolated short-stature phenotype. Rare and deleterious single nucleotide or copy number variants were assessed by bioinformatic tools.

Results

We identified 20 heterozygous pathogenic (P) or likely pathogenic (LP) genetic variants in 17 of 102 patients (diagnosti

SUBMITTER: Andrade NLM 

PROVIDER: S-EPMC9716379 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature