Tukel Syndrome

Clinical Features

Tukel et al. (2005) described 6 affected individuals from a large consanguineous Turkish family who had nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left.

Mapping

Tukel et al. (2005) performed a genomewide scan in the Turkish family with eye and hand anomalies and established linkage to a locus on chromosome 21qter, with a multipoint lod score of 4.53 at D21S1259. Fine mapping defined an approximately 1.5-Mb critical region between D21S1897 and the telomere of the long arm.

Inheritance

Four affected individuals in the Turkish family reported by Tukel et al. (2005) were offspring of first-cousin marriages, suggesting autosomal recessive inheritance.