RGD Reference Report - A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. - Rat Genome Database

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A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus.

Authors: Yildirim-Toruner, C  Subramanian, K  El Manjra, L  Chen, E  Goldstein, S  Vitale, E 
Citation: Yildirim-Toruner C, etal., Am J Med Genet A. 2004 Dec 15;131(3):281-6.
RGD ID: 1601217
Pubmed: PMID:15523639   (View Abstract at PubMed)
DOI: DOI:10.1002/ajmg.a.30390   (Journal Full-text)

Lymphedema-distichiasis (LD) syndrome is a clinically variable autosomal dominant disorder. The disorder is caused by mutations in the forkhead transcription factor FOXC2 gene on chromosome band 16q24.3. Here, we report the sequence of the FOXC2 gene in a German-Irish family with LD in six affected relatives over three generations and identify a single adenine base pair insertion at nt 1006--1007. This insertion creates a frameshift mutation that predicts a premature stop at codon 462. In addition to LD, four of the affected family members have renal disease and three have diabetes mellitus (DM), not usually seen in the LD syndrome. Polymorphisms of FOXC2 in diabetics have been studied in different populations. Our sequence analysis of the 5' untranslated region (UTR) C-512T shows the homozygous T allele in all family members tested. The sequencing data in this family suggests the possibility of a novel phenotype-haplotype. This novel phenotype, LD/renal disease/type 2 diabetes, might be the result of a combination of the nt 1006--1007 insA and the upstream UTR homozygous T polymorphism.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FOXC2Humaneyelid disease  IAGP lymphedema-distichiasis syndrome more ...RGD 
Foxc2Rateyelid disease  ISOFOXC2 (Homo sapiens)lymphedema-distichiasis syndrome more ...RGD 
FOXC2Humanlymphedema  IAGP lymphedema-distichiasis syndrome more ...RGD 
Foxc2Ratlymphedema  ISOFOXC2 (Homo sapiens)lymphedema-distichiasis syndrome more ...RGD 
FOXC2Humannephritis  IAGP DNA:insertion:1006insARGD 
Foxc2Ratnephritis  ISOFOXC2 (Homo sapiens)DNA:insertion:1006insARGD 
FOXC2Humantype 2 diabetes mellitus  IAGP DNA:insertion:1006insARGD 
Foxc2Rattype 2 diabetes mellitus  ISOFOXC2 (Homo sapiens)DNA:insertion:1006insARGD 

Objects Annotated

Genes (Rattus norvegicus)
Foxc2  (forkhead box C2)

Genes (Homo sapiens)
FOXC2  (forkhead box C2)


Additional Information