Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
Nat Genet. 2009 Dec;41(12):1272-4. doi: 10.1038/ng.484.
Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics define the autosomal recessive Hennekam syndrome. Homozygosity mapping identified a critical chromosomal region containing CCBE1, the human ortholog of a gene essential for lymphangiogenesis in zebrafish. Homozygous and compound heterozygous mutations in seven subjects paired with functional analysis in a zebrafish model identify CCBE1 as one of few genes causing primary generalized lymph-vessel dysplasia in humans.
淋巴水肿、淋巴管扩张、智力迟钝和特殊的面部特征定义了常染色体隐性 Hennekam 综合征。同型性定位确定了一个包含 CCBE1 的关键染色体区域，CCBE1 是斑马鱼中淋巴管生成所必需的基因的人类同源物。七个对象的纯合子和复合杂合突变与斑马鱼模型中的功能分析配对，将 CCBE1 鉴定为导致人类原发性全身性淋巴管发育不良的少数几个基因之一。
