Research development of short stature homeobox containing gene in short stature / 中华实用儿科临床杂志

Children short stature is pediatric endocrine disease.It has now been confirmed that short stature homeobox gene(SHOX gene)deletion and mutation are the molecular genetic basis of children Leri-Weill syndrome,Turner syndrome,idiopathic short stature and other short stature phenotype.SHOX gene defect has obvious heterogeneity in clinical phenotype.Early detection of SHOX gene defects provides important reference value and guiding significance for short stature diagnosis and treatment.

Study Advances on Short Stature Homeobox-Containing Gene Deficiency / 实用儿科临床杂志

The short stature homeobox-containing(SHOX) gene,located in the short-arm pseudoautosomal region (PAR1) of the sex chromosomes,is one of the recently discovered genes,which is related to short stature.Its encoded protein,as a transcription activator,plays an important role in the regulation of growth.It has now been confirmed that the human SHOX gene mutation can cause L?ri-Weill syndrome,Turner syndrome,idiopathic short stature growth and its related characteristic skeletal deformities.This review makes a summary about SHOX gene defects,its clinical phenotype and treatment.

Study on the deletions of SHOX gene and the correlation with corresponding phenotypes / 重庆医科大学学报

Objective:To study the deficiency ofshort stature homeobox containing (SHOX)gene deficiency ofshort stature and the relationship between genotypes and its corresponding phenotypes. Methods:Microsatellite analysis and direct sequencing were selected to analyze the deletions and mutations of SHOX gene in 203 cases of short stature;in addition ,anthropometric measures were assessed and radiographs of the left forearms and wrists in patients were collected to observe their phenotypes. Results:one mutation and eleven deletions were found;Detailed examination revealed certain dysmorphics,such as short forearm and lower leg,et al. Conclusion:In our study,the prevalence of SHOX deficiency in patients with short stature was 5.9% ,and certain correlations had been found between genotypes and corresponding phenotypes。

A Case of Leri-Weill Syndrome / 대한소아내분비학회지

Leri-Weill syndrome or Leri-Weill dyschondrosteosis represents a short stature syndrome that is characterized by symmetric shortening of the forearms and lower legs and a bilateral shortening and bowing of the radius with a dorsal subluxation of the distal ulna(Madelung deformity). Recent genetic analyses demonstrated that functional haploinsufficiency of SHOX(short stature homeobox-containing gene) accounts for Leri-Weill syndrome. Further studies are needed to explain phenotypic heterogeneity of SHOX defect. We experienced a case of Leri-Weill syndrome in a 11-year-old girl with short stature, who revealed typical Madelung deformity, mesomelic(middle segment) dysplasia, and a karyotype of 46,XX. In cases with dyschondrosteosis or Turner-characteristic dysmorphic skeletal features, detection of SHOX mutation is recommended.