β Scribed by Zori, Roberto T.; Gardner, James L.; Zhang, Jun; Mullan, Michael J.; Shah, Ritesh; Osborn, Aaron R.; Houlden, Henry; Wallace, Margaret R.; Roberts, Shearon; Yang, Thomas P.
No coin nor oath required. For personal study only.
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 Xp11.3-q11.2. 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. Am.
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