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 limita tion 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 ca use. Four distinct types of X-linked arthrogryposis have been reported , and a severe lethal form recently was mapped to Xp11.3-q11.2. We now report an extended family affected with a novel variant of X-linked a rthrogryposis that involves only the lower limbs. Linkage analysis wit h 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, (C) 1998 Wiley-Liss, Inc.