A gene for lymphedema-distichiasis maps to 16q24.3.
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.
Institute of Cancer Research, United Medical and Dental School, St. Thomas' Hospital, London, UK.
J
J
Mangion
N
N
Rahman
S
S
Mansour
G
G
Brice
J
J
Rosbotham
A H
AH
Child
V A
VA
Murday
P S
PS
Mortimer
R
R
Barfoot
A
A
Sigurdsson
S
S
Edkins
M
M
Sarfarazi
K
K
Burnand
A L
AL
Evans
T O
TO
Nunan
M R
MR
Stratton
S
S
Jeffery
D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008209:Lymphedema / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D020161:Physical Chromosome Mapping
D005819:Genetic Markers