Ostberg Anna, Moreno Gilberto, Su Tina, Trisnowati Niken, Marchuk Douglas, Murrell Dédée F
Department of Dermatology, St George Hospital, Gray Street, Kogarah, New South Wales 2217, Australia.
Australas J Dermatol. 2007 Aug;48(3):170-3. doi: 10.1111/j.1440-0960.2007.00373.x.
Glomuvenous malformations (MIM 138000) are rare vascular malformations consisting of glomus cells, and in affected individuals, lesions may appear in any number anywhere on the body. We analysed the DNA of one family with hereditary glomuvenous malformations and identified the mutation causing the disease in the glomulin gene on chromosome 1 p22. The deletion started at base pair 157: 157delAAGAA, which is a deletion of five base pairs. This mutation has been found in Europe, the USA and Australia, suggesting a founder effect with common ancestry. Thus far, no second-hit mutation for the 157delAAGAA mutation has been identified.
球静脉畸形（MIM 138000）是一种罕见的血管畸形，由球细胞组成，在受影响个体中，病变可出现在身体任何部位的任何数量处。我们分析了一个患有遗传性球静脉畸形的家族的DNA，并在1号染色体p22上的球球蛋白基因中鉴定出导致该疾病的突变。该缺失始于第157个碱基对：157delAAGAA，即五个碱基对的缺失。这种突变在欧洲、美国和澳大利亚均有发现，提示存在共同祖先的奠基者效应。迄今为止，尚未鉴定出157delAAGAA突变的二次打击突变。
