Patel R J, Appukuttan B, Ott S, Wang X, Stout J T
Division of Ophthalmology, Childrens Hospital Los Angeles, California 90027, USA.
Am J Ophthalmol. 2000 Feb;129(2):258-60. doi: 10.1016/s0002-9394(99)00328-1.
To evaluate the etiology of a unilateral hemangioblastoma noted in a male with a family history remarkable only for spine surgery in the proband's father.
Genomic DNA was isolated from peripheral blood of family members, and the three exons of the von Hippel-Lindau gene were examined for mutations by direct sequencing.
A three base pair (bp) deletion in exon 1 of the VHL gene was found in the father and both sons. This in-frame deletion results in the loss of a phenylalanine residue from the von Hippel-Lindau protein product, at amino acid position 76.
Genetic screening has confirmed that von Hippel-Lindau syndrome is responsible for the hemangioblastoma in the proband. Magnetic resonance imaging scans performed as a consequence of these results indicated spinal tumors present in the father and tumors present in the cerebellum of the proband's sibling. As close, lifelong follow-up is warranted with this disease, this case demonstrates the value of DNA testing in patients with ocular findings consistent with von Hippel-Lindau disease in the absence of a recognized family history.
评估一名男性患者单侧成血管细胞瘤的病因，该患者家族史仅在先证者的父亲中有脊柱手术史。
从家庭成员的外周血中分离基因组DNA，通过直接测序检测von Hippel-Lindau基因的三个外显子是否存在突变。
在父亲和两个儿子中发现VHL基因外显子1有一个三碱基对（bp）的缺失。这种框内缺失导致von Hippel-Lindau蛋白产物在氨基酸位置76处丢失一个苯丙氨酸残基。
基因筛查已证实von Hippel-Lindau综合征是先证者成血管细胞瘤的病因。基于这些结果进行的磁共振成像扫描显示，父亲存在脊柱肿瘤，先证者的兄弟姐妹存在小脑肿瘤。由于这种疾病需要密切的终身随访，该病例证明了在没有公认家族史但有与von Hippel-Lindau病一致的眼部表现的患者中进行DNA检测的价值。
