FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome
نویسندگان
چکیده
منابع مشابه
Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
Hereditary lymphedemas are developmental disorders of the lymphatics resulting in edema of the extremities due to altered lymphatic flow. One such disorder, the lymphedema-distichiasis syndrome, has been reported to be caused by mutations in the forkhead transcription factor, FOXC2. We sequenced the FOXC2 gene in 86 lymphedema families to identify mutations. Eleven families were identified with...
متن کاملA novel missense mutation and two microrearrangements in the FOXC2 gene of three families with lymphedema-distichiasis syndrome.
Lymphedema-distichiasis (LD) syndrome is a rare autosomal dominant disorder of the FOXC2 gene, which codes for a forkhead transcription factor. Most of the mutations described in this gene to date are deletions or insertions, suggesting a mechanism of haploinsufficiency. We studied three independent families with LD presenting with both lymphedema and distichiasis. Two microrearrangements (one ...
متن کاملFOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function
Dominant mutations in the FOXC2 gene cause a form of lymphedema primarily of the limbs that usually develops at or after puberty. In 90-95% of patients, lymphedema is accompanied by distichiasis. FOXC2 is a member of the forkhead/winged-helix family of transcription factors and plays essential roles in different developmental pathways and physiological processes. We previously described six unr...
متن کاملComparative lymphatic, ocular, and metabolic phenotypes of Foxc2 haploinsufficient and aP2-FOXC2 transgenic mice.
FOXC2 mutations cause the lymphatic/ocular disorder Lymphedema-Distichiasis (LD), and Foxc2 haploinsufficient mice mimic this disorder. To determine if FOXC2 overexpression might also cause lymphatic and/or ocular abnormalities, we performed dynamic lymphatic imaging (Evans blue dye), ocular tissue examination, and metabolic profiles in mice: transgenic for FOXC2 with an adipocyte (aP2) promote...
متن کاملA transgenic mouse model for human autosomal dominant cataract.
PURPOSE To characterize lenses from transgenic mice designed to express mutant and wild-type alphaA-crystallin subunits. METHODS A series of transgenic mouse strains was created to express mutant (R116C) and wild-type human alphaA-crystallin in fiber cells of the lens. Dissected lenses were phenotypically scored for the presence and extent of opacities, fiber cell morphology, and posterior su...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2003
ISSN: 1460-2083
DOI: 10.1093/hmg/ddg123