CELSR1基因的一种新突变与遗传性淋巴水肿相关。
A novel mutation in CELSR1 is associated with hereditary lymphedema.
作者信息
Gonzalez-Garay M L, Aldrich M B, Rasmussen J C, Guilliod R, Lapinski P E, King P D, Sevick-Muraca E M
机构信息
Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston, TX 77030 USA.
Memorial Herman Hospital and The University of Texas Health Science Center, Houston, TX 77030 USA.
出版信息
Vasc Cell. 2016 Feb 5;8:1. doi: 10.1186/s13221-016-0035-5. eCollection 2016.
BACKGROUND
Biological evidence reported in the literature supports the role of CELSR1 as being essential for valvular function in murine lymphatics. Yet thus far, there have been no variants in CELSR1 associated with lymphatic dysfunction in humans.
CASE PRESENTATION
In this report, a rare early inactivating mutation in CELSR1 is found to be causal for non-syndromic, lower extremity lymphedema in a family across three generations. Near-infrared fluorescence lymphatic imaging shows that instead of being propelled within the lumen of well-defined lymphatic vessels, lymph moved in regions of both legs in an unusual fashion and within sheet-like structures.
CONCLUSION
CELSRI may be responsible for primary, non-syndromic lymphedema in humans.
背景
文献中报道的生物学证据支持CELSR1对小鼠淋巴管瓣膜功能至关重要。然而，迄今为止，尚未发现CELSR1的变异与人类淋巴管功能障碍有关。
病例报告
在本报告中，发现CELSR1中一种罕见的早期失活突变是一个三代家族中非综合征性下肢淋巴水肿的病因。近红外荧光淋巴成像显示，淋巴并非在明确的淋巴管腔内推进，而是以一种不寻常的方式在双腿区域及片状结构内移动。
结论
CELSRI可能是人类原发性非综合征性淋巴水肿的病因。
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