Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

ABSTRACT:

Introduction

The diagnostic yield of genetic analysis in the evaluation of children with short stature depends on associated clinical characteristics, but the additional effect of parental consanguinity has not been well documented.

Methods

This observational case series of 42 short children from 34 consanguineous families was collected by six referral centres of paediatric endocrinology (inclusion criteria: short stature and parental consanguinity). In 18 patients (12 families, group 1), the clinical features suggested a specific genetic defect in the growth hormone (GH) insulin-like growth factor I (IGF-I) axis, and a candidate gene approach was used. In others (group 2), a hypothesis-free approach was chosen (gene panels, microarray analysis, and whole exome sequencing) a

SUBMITTER: Joustra SD 

PROVIDER: S-EPMC7616538 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature