Kebudi Rejin, Tuncer Samuray, Upadhyaya Meena, Peksayar Gonul, Spurlock Gill, Yazici Hulya
Division of Pediatric Hematology-Oncology, Oncology Institute, Istanbul University, Turkey.
Pediatr Blood Cancer. 2008 Mar;50(3):713-5. doi: 10.1002/pbc.21234.
We present the clinical and ophthalmological findings, genetic analysis, and therapy of two siblings with NF1 and bilateral OPG. In genetic analysis, a heteroduplex profile was detected in exon 4b of the NF1 gene for the affected patients and mother. Sequencing of the DNA samples identified a C > T nucleotide change in exon 4b (c484CAG > TAG). This nonsense mutation resulted in a change of glutamine to a stop codon (Q162X) and is a novel NF1 gene alteration.
我们报告了两名患有神经纤维瘤病1型（NF1）和双侧视神经胶质瘤（OPG）的兄弟姐妹的临床和眼科检查结果、基因分析及治疗情况。在基因分析中，在患病患者及其母亲的NF1基因第4b外显子中检测到异源双链图谱。对DNA样本进行测序后，在第4b外显子中鉴定出一个C>T核苷酸变化（c484CAG>TAG）。这种无义突变导致谷氨酰胺变为终止密码子（Q162X），是一种新的NF1基因改变。
