Division of Pediatric Nephrology, Department of Pediatrics, The Second Xiangya Hospital of Central South University, Changsha, Hunan, P.R. China.
Mol Med Rep. 2013 Oct;8(4):1183-7. doi: 10.3892/mmr.2013.1625. Epub 2013 Aug 12.
In this study, we report the case of a 12-year-old male with X-linked ichthyosis (XLI) in association with glomerular sclerosis, and our investigation into the deletion pattern of the STS gene and the flanking regions in DNA samples of family members. We observed no features typical of renal osteodystrophy or rickets, with the exception of short stature, in the three afffected male family members. Audiometry, visual acuity and olfactory sensation were normal. By performing PCR analysis of the steroid sulfatase (STS) gene and flanking regions on our patients, we discovered a complete deletion that involved the entire region from DXS1139 to DXF22S1. Further studies are required to determine whether the STS gene or the co-deleted flanking sequences are the cause of renal disease associated with XLI.
在这项研究中，我们报告了一例 12 岁男性 X 连锁鱼鳞病（XLI）合并肾小球硬化症的病例，并对家族成员的 STS 基因及其侧翼区域的缺失模式进行了研究。我们观察到 3 名受影响的男性家族成员除身材矮小外，无肾性骨营养不良或佝偻病的典型特征。听力、视力和嗅觉正常。通过对患者的类固醇硫酸酯酶（STS）基因及其侧翼区域进行 PCR 分析，我们发现了一个完全缺失，涉及从 DXS1139 到 DXF22S1 的整个区域。需要进一步研究以确定是 STS 基因还是共同缺失的侧翼序列导致 XLI 相关肾脏疾病。
