RGD Reference Report - Truncating mutations in FOXC2 cause multiple lymphedema syndromes. - Rat Genome Database

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Truncating mutations in FOXC2 cause multiple lymphedema syndromes.

Authors: Finegold, DN  Kimak, MA  Lawrence, EC  Levinson, KL  Cherniske, EM  Pober, BR  Dunlap, JW  Ferrell, RE 
Citation: Finegold DN, etal., Hum Mol Genet. 2001 May 15;10(11):1185-9.
RGD ID: 1601216
Pubmed: PMID:11371511   (View Abstract at PubMed)

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 mutations predicted to disrupt the DNA binding domain and/or C-terminal alpha-helices essential for transcription activation by FOXC2. Broad phenotypic heterogeneity was observed within these families. The phenotypes observed overlapped four phenotypically defined lymphedema syndromes. FOXC2 appears to be the primary cause of lymphedema-distichiasis syndrome and is also a cause of lymphedema in families displaying phenotypes attributed to other lymphedema syndromes. Our data demonstrates that the phenotypic classification of autosomal dominant lymphedema does not reflect the underlying genetic causation of these disorders.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
lymphedema  IAGP 1601216lymphedema and ptosis more ...RGD 
lymphedema  ISOFOXC2 (Homo sapiens)1601216lymphedema and ptosis more ...RGD 
ptosis  IAGP 1601216lymphedema and ptosis more ...RGD 
ptosis  ISOFOXC2 (Homo sapiens)1601216lymphedema and ptosis more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Foxc2  (forkhead box C2)

Genes (Homo sapiens)
FOXC2  (forkhead box C2)


Additional Information