Matsui Y, Yasui N, Kimura T, Tsumaki N, Kawabata H, Ochi T
Department of Orthopaedic Surgery, Osaka Medical Centre and Research Institute for Maternal and Child Health, Japan.
J Bone Joint Surg Br. 1998 Nov;80(6):1052-6. doi: 10.1302/0301-620x.80b6.9277.
Recent studies of the fibroblast growth factor receptor 3 (FGFR3) gene have established that achondroplasia and hypochondroplasia are allelic disorders of different mutations. To determine whether the genotype could be distinguished on the basis of the phenotype, we analysed height, arm span, and skeletal radiographs from 23 patients with achondroplasia and the G380R mutation of FGFR3 and eight with hypochondroplasia and the N540K mutation. Both conditions share the classical pathological features of micromelic short stature, reduced or unchanged interpedicular distances in the lumbar spine, disproportionately long fibulae, and squared and shortened pelvic ilia. These were significantly more severe in the G380R patients than in the N540K patients. Our findings have shown a firm statistical correlation between the genotype and the phenotype, although there were a few exceptional cases in which there was phenotypic overlap between the two conditions.
近期对成纤维细胞生长因子受体3（FGFR3）基因的研究证实，软骨发育不全和软骨发育低下是由不同突变引起的等位基因疾病。为了确定是否可以根据表型来区分基因型，我们分析了23例患有软骨发育不全且携带FGFR3基因G380R突变的患者以及8例患有软骨发育低下且携带N540K突变的患者的身高、臂展和骨骼X光片。这两种病症都具有典型的病理特征，即四肢短小身材、腰椎椎弓根间距减小或不变、腓骨过长以及骨盆髂骨变方和缩短。这些特征在携带G380R突变的患者中比在携带N540K突变的患者中更为严重。我们的研究结果表明基因型与表型之间存在确凿的统计学关联，尽管存在少数例外情况，即两种病症之间存在表型重叠。
