Department of Ophthalmology and Visual Sciences, The University of Iowa Hospitals & Clinics, Iowa City, Iowa, USA.
Am J Med Genet A. 2010 Nov;152A(11):2875-9. doi: 10.1002/ajmg.a.33621.
Knobloch syndrome (KNO) is caused by mutations in the collagen XVIII gene (COL18A1) and patients develop encephalocele and vitreoretinal degeneration. Here, we report an El Salvadorian family where two sisters showed features of KNO. One of the siblings also developed acute lymphoblastic leukemia. DNA sequencing of COL18A1 revealed a homozygous, 2-bp deletion (c3514-3515delCT) in exon 41, which leads to abnormal collagen XVIII and deficiency of its proteolytic cleavage product endostatin. KNO patients with mutations in COL18A1 may be at risk for endostatin-related conditions including malignancy.
诺布洛克综合征（KNO）是由胶原蛋白 XVIII 基因（COL18A1）突变引起的，患者会出现脑膨出和视网膜变性。在这里，我们报告了一个萨尔瓦多家族，其中两个姐妹表现出 KNO 的特征。其中一个兄弟姐妹还患有急性淋巴细胞白血病。COL18A1 的 DNA 测序显示，在第 41 外显子中存在纯合的 2 个碱基缺失（c3514-3515delCT），导致异常的胶原蛋白 XVIII 和其蛋白水解切割产物内皮抑素的缺乏。COL18A1 突变的 KNO 患者可能有内皮抑素相关疾病的风险，包括恶性肿瘤。
