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https://hdl.handle.net/2440/28064
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Type: | Journal article |
Title: | Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene |
Author: | Bell, R. Brice, G. Child, A. Murday, V. Mansour, S. Sandy, C. Collin, J. Brady, A. Callen, D. Burnand, K. Mortimer, P. Jeffery, S. |
Citation: | Human Genetics, 2001; 108(6):546-551 |
Publisher: | Springer-Verlag |
Issue Date: | 2001 |
ISSN: | 0340-6717 1432-1203 |
Statement of Responsibility: | R. Bell, G. Brice, A. Child, V. Murday, S. Mansour, C. Sandy, J. Collin, A. Brady, D. Callen, K. Burnand, P. Mortimer, S. Jeffery |
Abstract: | 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. |
Keywords: | Humans Eyelid Diseases Lymphedema DNA-Binding Proteins Transcription Factors DNA Mutagenesis, Insertional Pedigree DNA Mutational Analysis Sequence Deletion Mutation Family Health Female Male Forkhead Transcription Factors |
DOI: | 10.1007/s004390100528 |
Published version: | http://dx.doi.org/10.1007/s004390100528 |
Appears in Collections: | Aurora harvest 2 Molecular and Biomedical Science publications |
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