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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1999 Aug;65(2):427–432. doi: 10.1086/302500

A gene for lymphedema-distichiasis maps to 16q24.3.

J Mangion 1, N Rahman 1, S Mansour 1, G Brice 1, J Rosbotham 1, A H Child 1, V A Murday 1, P S Mortimer 1, R Barfoot 1, A Sigurdsson 1, S Edkins 1, M Sarfarazi 1, K Burnand 1, A L Evans 1, T O Nunan 1, M R Stratton 1, S Jeffery 1
PMCID: PMC1377941  PMID: 10417285

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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Selected References

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