Study On The Deficiency Of SHOX Gene And The Correlation With Phenotypes And X-ray Deformity Of Iss

Objective : To study the deficiency of short stature homeobox containing (SHOX)gene deficiency of ISS in Chongqing and the relationship among the genotypes, phenotypes and skeleton feature.Methods:The authors tested for variations in gene SHOX and the pseudoautosomal region (PARI) of the sex chromosomes in 354 individuals with idiopathic short stature (ISS) and compared the results with 196 normal height controls, using microsatellites and direct sequencing.Results:1. 3 mutations and 34 deletions were found;the prevalence of SHOX deficiency in patients with idiopathic short stature was 10.5%(37/354).2. We found that not only in age but also height between the two groups were all no significant differences, while in the SHOX gene deficiency group, we found that BMI is (-0.067±0.975) ,but in no abnormal SHOX gene group the BMI is (-0.224±1.060), the two independent specimens T test (p = 0.01 <0.05).3. Analysis of variance between three groups have obvious difference phenotypes indicators (P < 0.01) , these are: sit high/height, wingspan/height, forearm length /height, upper arm length/height, forearm length /upper arm length, leg length /height, leg circumference /height, extremities-trunk ratio, Correction height minus extremities-trunk ratio; while no statistically significant difference indexes are: forearm circumference/height and upper arm circumference/height.4. Non-SHOX genetic deficiency no less than four indicators of the above changes, compared with normal group we found,these are: sitting height/height increased (P < 0.001); extremities-trunk ratio decreased (P < 0.001) and upper arm length/height decreased (P = 0.022), leg length/height (P = < 0.001) decreased;5. SHOX genetic deficiency no less than four indicators of the above changes, compared with the ISS without SHOX deficiency group we also found that the tendency of increasing in forearm length / upper arm length (p = 0.024), and decreasing in forearm length / height (p = 0.017); furthermore more significant increasing in sitting height/ Height (p = 0.026) and decreasing in extremities- trunk ratio (P < 0.001).6. Three indexes was not statistically significant when the non-SHOX gene abnormalities group compared with normal control group, but only when SHOX gene abnormal group compared with the non-SHOX gene abnormalities group were statistically significant differences, these are: the forearm length/height (P = 0.017), forearm length /upper arm length (P = 0.024) and Correction height minus extremities-trunk ratio (P < 0.001).7. Variance analysis three groups X-ray bone characteristic indexes have obvious difference with some Madelung deformity (P < 0.05) ,these are : high vertical radius;height between the distal ulna and radius;inside the plane angle between the wrist distal ulna and radius. the most prominent is the SHOX gene abnormality with diminution of distal ulna and radius included angle (P <0.01).Conclusion:1. The frequency of SHOX defiency of ISS patients in this research was 10.5%.2. Patients with SHOX mutations and deletions present a broad phenotypic variability, while we found that the SHOX gene deficiency with increasing sitting height / height, forearm length / upper arm length, leg circumference / height, and decreasing extremities-trunk ratio, upper arm length / height, leg length / height, arm length / height.3. The skeleton X-ray characteristics of the ISS patients with abnormal SHOX gene include the reduction of the included angle between the distal joint medial surfaces of the ulna and radius, the vertical height increase of the radius, the increase of the distal height difference between the ulna and radius.4. These X-Ray characteristics are more serious in females than males and are more obvious with the increase of age.