Treacher Collins syndrome is an autosomal dominant disorder of abnormal craniofacial development. Linkage analysis was performed in Treacher Collins families with restriction fragment length or microsatellite polymorphisms associated with eight loci previously mapped to 5q31→qter. Positive lod scores were obtained for four loci, D5S119, D5S207, D5S209, and D5S210, which map to 5q31.3→q33.3. The Treacher Collins syndrome locus was linked closest to locus D5S210, which is associated with microsatellite polymorphisms, with a maximum lod score of 8.65 at θ = 0.02. The Treacher Collins syndrome locus was excluded from locus ADRB2R, which maps to 5q31→q32, and loci D5S22, D5S61, and D5S43, which map to 5q34→qter. There was no evidence for genetic heterogeneity among eight families with variable expression of the condition.
ASJC Scopus subject areas