AUTOZYGOSITY MAPPING, TO CHROMOSOME 11Q25, OF A RARE AUTOSOMAL RECESSIVE SYNDROME CAUSING HISTIOCYTOSIS, JOINT CONTRACTURES, AND SENSORINEURAL DEAFNESS

We describe a highly consanguineous family, originating from Pakistan, displaying histiocytosis, joint contractures, and sensorineural deafn ess. The form of histiocytosis exhibited by this family does not fit r eadily into any of the recognized classes of this disease. It appears to represent a novel form of familial histiocytosis demonstrating auto somal recessive inheritance. Using autozygosity mapping, we have ident ified a homozygous region of similar to 1 cM at chromosome 11q25, in a ffected individuals. A maximum two-point LOD score of 3.42 (recombinat ion fraction theta = .00) was obtained with marker D11S968. This is th e first genetic locus to be described that is involved in the molecula r pathogenesis of histiocytosis.