Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review.

ABSTRACT:

Background

The pathogenic mutation of short stature homeobox (SHOX) gene is one of the main genetic causes of short stature in children, with an incidence rate of 1/1000~1/2000 and the main clinical manifestations are short stature and (or) limb skeletal abnormalities. SHOX gene mutations are mostly large deletions of regulatory sequence genes, while exon mutations are relatively rare. The pathogenic rate of mutations occurring in exon 5 is only 1/50 000~1/100 000. This study reviewed the clinical data of a child with SHOX gene mutation in exon 5, and analyzed the clinical phenotype, pathogenesis, diagnosis, treatment and prognosis of SHOX gene mutation in combination with relevant literature at home and abroad.

Case presentation

The patient was an 8-year-old girl with a hei

SUBMITTER: Liu L 

PROVIDER: S-EPMC10578768 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature