Department of Ultrasound, Women and Children's Hospital of Sichuan Province, No.290, Shayan West 2nd Road, Chengdu, 610031, Sichuan Province, China.
Department of Prenatal Diagnosis, Women and Children's Hospital of Sichuan Province, No.290, Shayan West 2nd Road, Chengdu, 610031, Sichuan Province, China.
BMC Pediatr. 2019 Jul 23;19(1):250. doi: 10.1186/s12887-019-1629-x.
X-linked recessive chondrodysplasia punctate (CDPX1) is a rare congenital disorder of bone and cartilage development, caused by a mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. Although most of the affected men had mild symptoms, some had more severe symptoms, and had a poor prognosis.
We present the case of a male fetus diagnosed with CDPX1. Ultrasound clearly showed that hypoplasia of the midface, flatness of face, low flatness of the nose, collapse of the tip of the nose, accompanied by severe spinal stenosis and secondary ossification center of the femoral metaphysis appeared in advance. Chromosome analysis of the amniotic fluid cells revealed 46, XY. Whole exome sequencing showed that there was a novel missense mutation of c.640G > A in ARSE gene on X chromosome. Three protein function prediction software FATHMM、Polyphen-2、PROVEAN have shown that the novel missense mutation of c.640G > A in this study was pathogenic.
Our case is a novel mutation and presents a typical characterization of the disease, which can expand the spectrum of mutations of the ARSE gene and is helpful for prenatal ultrasound diagnosis of this disease.
X 连锁隐性点状软骨发育不良（CDPX1）是一种罕见的骨和软骨发育障碍性疾病，由位于 Xp22.3 染色体上的芳基硫酸酯酶 E（ARSE）基因突变引起。虽然大多数受影响的男性症状较轻，但也有一些症状较重，预后较差。
我们报告了一例男性胎儿被诊断为 CDPX1 的病例。超声清楚地显示中面部发育不良、面部扁平、鼻梁低平、鼻尖塌陷，同时伴有严重的脊柱狭窄和股骨干骺端二次骨化中心提前出现。羊水细胞染色体分析显示为 46，XY。全外显子组测序显示 X 染色体上的 ARSE 基因存在 c.640G>A 的新型错义突变。三种蛋白功能预测软件 FATHMM、Polyphen-2、PROVEAN 均显示本研究中 c.640G>A 的新型错义突变具有致病性。
我们的病例是一种新型突变，表现出典型的疾病特征，可扩展 ARSE 基因突变谱，有助于该病的产前超声诊断。
