Format

Send to

Choose Destination
Am J Hum Genet. 1999 Aug;65(2):427-32.

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

Author information

1
Institute of Cancer Research, United Medical and Dental School, St. Thomas' Hospital, London, UK.

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.

PMID:
10417285
PMCID:
PMC1377941
DOI:
10.1086/302500
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center