Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategies.

ABSTRACT:

Background

SHOX mutations have previously been described as causes of Léri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and idiopathic short stature. The loss of X chromosome-Turner syndrome or mosaic 45,X/46,XX or 46,XY-also leads to the heterozygous loss of SHOX in patients with short stature only or with features similar to LWD. The aim of this study was to assess the efficacy of the targeted screening for SHOX variants, which involved different methods in the laboratory analysis of short stature. We determined the significance and positive predictive value of short stature for the detection of SHOX variants.

Methods

Targeted screening for variants in SHOX involving MLPA, sequencing, karyotyping and FISH was performed

SUBMITTER: Capkova P 

PROVIDER: S-EPMC7678493 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature