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

Authors
Mangion, J Rahman, N Mansour, S Brice, G Rosbotham, J Child, AH Murday, VA Mortimer, PS Barfoot, R Sigurdsson, A Edkins, S Sarfarazi, M Burnand, K Evans, AL Nunan, TO Stratton, MR Jeffery, S
Citation
J. Mangion et al., A gene for lymphedema-distichiasis maps to 16q24.3, AM J HU GEN, 65(2), 1999, pp. 427-432
Citations number
15
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF HUMAN GENETICS
ISSN journal
00029297 → ACNP
Volume
65
Issue
2
Year of publication
1999
Pages
427 - 432
Database
ISI
SICI code
0002-9297(199908)65:2<427:AGFLMT>2.0.ZU;2-S
Abstract
Lymphedema-distichiasis (LD) is a dominantly inherited syndrome with onset of lymphedema at or just after puberty. Most affected individuals have dist ichiasis-fine hairs arising inappropriately from the eyelid meibomian gland s-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 re combinant genes places the locus between D16S422 and D16S3074, a distance o f similar to 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.