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.
Mangion
J
J
Institute of Cancer Research, United Medical and Dental School, St. Thomas' Hospital, London, UK.
Rahman
N
N
Mansour
S
S
Brice
G
G
Rosbotham
J
J
Child
A H
AH
Murday
V A
VA
Mortimer
P S
PS
Barfoot
R
R
Sigurdsson
A
A
Edkins
S
S
Sarfarazi
M
M
Burnand
K
K
Evans
A L
AL
Nunan
T O
TO
Stratton
M R
MR
Jeffery
S
S
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