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目的研究特发性矮小(idiopathic short stature,ISS)中矮小同源盒基因(short stature homeobox-containinggene,SHOX)缺失和突变与X线骨骼特征指标的关系。方法采用微卫星分析及外显子测序对354例矮小症患者进行SHOX基因分析,对检测出的SHOX基因异常患者进行X线骨骼指标统计学分析。结果 354例矮小症患者中发现SHOX基因异常35例(9.9%,35/354),其中外显子突变3例(8.6%,3/35),SHOX基因缺失32例(91.4%,32/35)。X线骨骼特征指标:SHOX基因异常组与正常组相比有轻微马德隆畸形改变,其中最突出的是SHOX异常组尺桡骨远端关节内侧面夹角明显减小(P<0.05,P<0.01)。结论 SHOX基因异常者X线骨骼指标的改变有尺桡骨远端关节内侧面夹角减小、桡骨垂高增加、和尺桡骨远端高度差增加等,女性较男性改变更为明显,且有随年龄增长骨骼表现更为明显的趋势。
Objective To study the relationship between short stature homeobox-containing gene (SHOX) deletion and mutation and X-ray skeletal characteristics in idiopathic short stature (ISS). Methods The microsatellite analysis and exon sequencing were used to analyze SHOX gene in 354 cases of short stature and analyze the X-ray skeletal parameters of patients with abnormal SHOX gene detected. Results There were 35 (9.9%, 35/354) cases of SHOX gene abnormalities found in 354 cases of short stature, including 3 cases of exon mutation (8.6%, 3/35), 32 cases of SHOX gene deletion (91.4%, 32/35 ). X-ray skeletal characteristics index: SHOX gene abnormal group compared with the normal group slightly modified Madero deformity, the most prominent is the SHOX abnormal group distal radius of the ulnar medial joint angle was significantly reduced (P <0.05, P <0.01) . Conclusion The change of skeletal index of X-ray in patients with abnormal SHOX gene is characterized by the decrease of the angle of medial side of distal joint of radius and ulna, the increase of radial height and the increase of height difference of distal radius of radius and radius Increased bone skeletal performance more pronounced trend.