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Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. 2001

R Bell, and G Brice, and A H Child, and V A Murday, and S Mansour, and C J Sandy, and J R Collin, and A F Brady, and D F Callen, and K Burnand, and P Mortimer, and S Jeffery
Medical Genetics Unit, St George's Medical School, London, England.

Lymphoedema-distichiasis (LD) is a dominantly inherited form of primary lymphoedema with onset of lower limb swelling at puberty or later. There is variable penetrance of this disorder, but the most consistently inherited feature is distichiasis, viz. fine hairs arising inappropriately from the meibomian glands. We established linkage of this disorder to 16q24.3 and the gene has recently been identified as the forkhead transcription factor FOXC2. We report the mutational analysis of 14 families with LD. All but one of these pedigrees have small insertions or deletions in the gene, which seem likely to produce haploinsufficiency. The mutation sites are scattered throughout the gene. There is one family with a mis-sense mutation in the forkhead domain of the protein. This base alteration is not a common polymorphism, is co-inherited with the disease and produces a non-conservative amino acid change.

UI MeSH Term Description Entries
D008209 Lymphedema Edema due to obstruction of lymph vessels or disorders of the lymph nodes. Milroy's Disease,Congenital Familial Lymphedema,Congenital Hereditary Lymphedema,Early Onset Lymphedema,Hereditary Lymphedema,Hereditary Lymphedema 1,Hereditary Lymphedema Type I,Lymphedema, Early-Onset,Lymphedema, Hereditary, Ia,Milroy Disease,Nonne-Milroy Disease,Nonne-Milroy Lymphedema,Nonne-Milroy-Meige Disease,Primary Congenital Lymphedema,Congenital Hereditary Lymphedemas,Congenital Lymphedema, Primary,Congenital Lymphedemas, Primary,Early Onset Lymphedemas,Early-Onset Lymphedema,Early-Onset Lymphedemas,Hereditary Lymphedema 1s,Hereditary Lymphedema, Congenital,Hereditary Lymphedemas,Hereditary Lymphedemas, Congenital,Lymphedema, Congenital Hereditary,Lymphedema, Early Onset,Lymphedema, Hereditary,Lymphedema, Nonne-Milroy,Lymphedema, Primary Congenital,Lymphedemas,Lymphedemas, Congenital Hereditary,Lymphedemas, Early Onset,Lymphedemas, Early-Onset,Lymphedemas, Hereditary,Lymphedemas, Primary Congenital,Milroys Disease,Nonne Milroy Disease,Nonne Milroy Lymphedema,Nonne Milroy Meige Disease,Primary Congenital Lymphedemas
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D004268 DNA-Binding Proteins Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases. DNA Helix Destabilizing Proteins,DNA-Binding Protein,Single-Stranded DNA Binding Proteins,DNA Binding Protein,DNA Single-Stranded Binding Protein,SS DNA BP,Single-Stranded DNA-Binding Protein,Binding Protein, DNA,DNA Binding Proteins,DNA Single Stranded Binding Protein,DNA-Binding Protein, Single-Stranded,Protein, DNA-Binding,Single Stranded DNA Binding Protein,Single Stranded DNA Binding Proteins
D005141 Eyelid Diseases Diseases involving the EYELIDS. Disease, Eyelid,Diseases, Eyelid,Eyelid Disease
D005192 Family Health The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members. Health, Family
D005260 Female Females

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