Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature

ABSTRACT:

Objective

SHOX gene mutations constitute one of the genetic causes of short stature. The clinical phenotype includes variable degrees of growth impairment, such as Langer mesomelic dysplasia (LMD), Léri-Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS). The aim of this study was to describe the clinical features and molecular results of SHOX deficiency in a group of Turkish patients who had skeletal findings with and without short stature.

Methods

Forty-six patients with ISS, disproportionate short stature or skeletal findings without short stature from 35 different families were included. SHOX gene analysis was performed using Sanger sequencing and multiplex ligation-dependent probe amplification analysis.

Results

Three different po

SUBMITTER: Gursoy S 

PROVIDER: S-EPMC7711637 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature