Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome.
Arthrogryposis is a heterogeneous birth defect characterized by limitation of movement at multiple joints. One in 3,000 infants is born with arthrogryposis, and at least a third of these cases have a genetic cause. Four distinct types of X-linked arthrogryposis have been reported, and a severe lethal form recently was mapped to Xpll.3-qll.2. We now report an extended family affected with a novel variant of X-linked arthrogryposis that involves only the lower limbs. Linkage analysis with polymorphic DNA markers maps the disease locus in this unique family to the long arm of the human X chromosome between DXS1220 and DXS1205 in Xq23-27.
Department of Pediatrics, College of Medicine, University of Florida, Gainesville 32610, USA.
R T
RT
Zori
J L
JL
Gardner
J
J
Zhang
M J
MJ
Mullan
R
R
Shah
A R
AR
Osborn
H
H
Houlden
M R
MR
Wallace
S
S
Roberts
T P
TP
Yang
D000483:Alleles; D000843:Ankle Joint / Q000002:abnormalities; D001176:Arthrogryposis / Q000235:genetics*; D002874:Chromosome Mapping; D005260:Female; D005684:Gait; D005787:Gene Frequency; D008040:Genetic Linkage; D005838:Genotype; D006621:Hip Joint / Q000002:abnormalities; D006801:Humans; D007719:Knee Joint / Q000002:abnormalities; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome