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GJC2 missense mutations cause human lymphedema.

Abstract：

:Lymphedema is the clinical manifestation of defects in lymphatic structure or function. Mutations identified in genes regulating lymphatic development result in inherited lymphedema. No mutations have yet been identified in genes mediating lymphatic function that result in inherited lymphedema. Survey microarray studies comparing lymphatic and blood endothelial cells identified expression of several connexins in lymphatic endothelial cells. Additionally, gap junctions are implicated in maintaining lymphatic flow. By sequencing GJA1, GJA4, and GJC2 in a group of families with dominantly inherited lymphedema, we identified six probands with unique missense mutations in GJC2 (encoding connexin [Cx] 47). Two larger families cosegregate lymphedema and GJC2 mutation (LOD score = 6.5). We hypothesize that missense mutations in GJC2 alter gap junction function and disrupt lymphatic flow. Until now, GJC2 mutations were only thought to cause dysmyelination, with primary expression of Cx47 limited to the central nervous system. The identification of GJC2 mutations as a cause of primary lymphedema raises the possibility of novel gap-junction-modifying agents as potential therapy for some forms of lymphedema.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Ferrell RE,Baty CJ,Kimak MA,Karlsson JM,Lawrence EC,Franke-Snyder M,Meriney SD,Feingold E,Finegold DN

doi

10.1016/j.ajhg.2010.04.010

subject

Has Abstract

pub_date

2010-06-11 00:00:00

pages

943-8

issue

6

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(10)00213-2

journal_volume

86

pub_type

杂志文章

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