Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo M G, Brunetti-Pierri N, Ballabio A, Andria G
Department of Pediatrics, Federico II University, Naples, Italy.
Am J Med Genet. 1997 Dec 12;73(2):139-43. doi: 10.1002/(sici)1096-8628(19971212)73:2<139::aid-ajmg7>3.0.co;2-p.
Chondrodysplasia punctata (CP) is a heterogeneous group of bone dysplasias that are characterized by abnormal calcium deposition in areas of enchondral bone formation. The existence of an X-linked recessive form of chondrodysplasia punctata (CDPX) has been recognized in patients who are nullisomic for the Xp22.3 region, presenting with complex phenotypes. The gene of CDPX has been identified recently, and five point mutations of the gene, named ARSE, have been described. Here, we report on the clinical and molecular characterization of a patient with CDPX. The patient presented at birth with cranial and facial anomalies and short stature; an x-ray skeletal survey showed punctate calcifications and striking hand and foot abnormalities. Single strand conformation polymorphism (SSCP) and sequence analysis of the patient's DNA allowed the identification of a new mutation of the ARSE gene; this mutation causes an amino acid substitution from cysteine to tyrosine at position 492 of the ARSE predicted protein product. The clinical description of patients with CDPX due to known mutation of the ARSE is of interest for the precise delineation of the clinical spectrum of the disease.
点状软骨发育不良（CP）是一组异质性骨发育不良，其特征是软骨内骨形成区域出现异常钙沉积。X连锁隐性形式的点状软骨发育不良（CDPX）已在Xp22.3区域缺失的患者中得到确认，这些患者表现出复杂的表型。CDPX的基因最近已被鉴定出来，并且已经描述了该基因的五个点突变，命名为ARSE。在此，我们报告一例CDPX患者的临床和分子特征。该患者出生时伴有头面部畸形和身材矮小；X线骨骼检查显示点状钙化以及明显的手足异常。对患者DNA进行单链构象多态性（SSCP）和序列分析，发现了ARSE基因的一个新突变；该突变导致ARSE预测蛋白产物第492位氨基酸由半胱氨酸替换为酪氨酸。由于ARSE已知突变导致的CDPX患者的临床描述，对于精确描绘该疾病的临床谱具有重要意义。
