Vreeburg Maaike, Heitink Martijn V, Damstra Robert J, Moog Ute, van Geel Michel, van Steensel Maurice A M
Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands.
Int J Dermatol. 2008 Nov;47 Suppl 1:52-5. doi: 10.1111/j.1365-4632.2008.03962.x.
Lymphedema-distichiasis syndrome (LD, OMIM 153400) is an autosomal dominant disorder with variable expression. It is caused by mutations in the FOXC2-gene, which codes for a forkhead transcription factor involved in the development of the lymphatic and vascular system. LD is characterized by late childhood or pubertal onset lymphedema of the limbs and distichiasis (double row of eyelashes). While the latter is the most common expression of LD, venous insufficiency occurs in half of the patients. Other associations have been reported, including congenital heart disease, ptosis, cleft lip/palate and spinal extradural cysts. Here we describe a family with classical lymphedema-distichiasis syndrome caused by a duplication in the FOXC2-gene.
淋巴水肿-双行睫综合征（LD，OMIM 153400）是一种具有可变表达的常染色体显性疾病。它由FOXC2基因的突变引起，该基因编码一种参与淋巴和血管系统发育的叉头转录因子。LD的特征是儿童晚期或青春期开始出现的肢体淋巴水肿和双行睫（双排睫毛）。虽然后者是LD最常见的表现，但一半的患者会出现静脉功能不全。还报告了其他相关情况，包括先天性心脏病、上睑下垂、唇腭裂和脊柱硬膜外囊肿。在这里，我们描述了一个由FOXC2基因重复导致的典型淋巴水肿-双行睫综合征家族。
