A gene for lymphedema-distichiasis maps to 16q24.3. |
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| Authors: | J Mangion N Rahman S Mansour G Brice J Rosbotham A H Child V A Murday P S Mortimer R Barfoot A Sigurdsson S Edkins M Sarfarazi K Burnand A L Evans T O Nunan M R Stratton S Jeffery |
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| Affiliation: | Institute of Cancer Research, United Medical and Dental School, St. Thomas' Hospital, London, UK. |
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| Abstract: | Lymphedema-distichiasis (LD) is a dominantly inherited syndrome with onset of lymphedema at or just after puberty. Most affected individuals have distichiasis-fine hairs arising inappropriately from the eyelid meibomian glands-which is evident from birth. A study of three families with LD has shown linkage to chromosome 16q24.3, and subsequent analysis of the region for recombinant genes places the locus between D16S422 and D16S3074, a distance of approximately 16 cM. Possible candidate genes in this interval include the N-proteinase for type 3 collagen, PCOLN3; the metalloprotease PRSM1; and the cell matrix-adhesion regulator, CMAR. |
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