Isolated Microspherophakia in a Consanguineous Multiplex Tunisian Family: Exclusion of ADAMTS10 Gene

Abstract

Purpose: : Microspherophakia is one of the common manifestations of autosomal recessive Weill-Marchesani syndrome due to mutations within ADAMTS10 gene. As the locus responsible for the isolated microspherophakia is still unknown because the reported cases are rare, we checked if ADAMTS10 gene is involved in isolated microspherophakia in a Tunisian family.

Methods: : The study included 8 members of a consanguineous family from Central Tunisia (two affected siblings and six unaffected members). The two affected patients presented with decreased vision secondary to isolated bilateral microspherophakia. All the other members had a normal ocular and general physical examination. A linkage analysis was performed using microsatellite markers flanking the ADAMTS10 gene.

Results: : The parents were unaffected in this family and both sexes were affected in the siblings suggesting an autosomal recessive inheritance of isolated microspherophakia. Haplotypic analysis using four microsatellite markers showed an exclusion of linkage between ADAMTS10 gene and the disease locus in this family.

Conclusions: : This first molecular study suggests that isolated microspherophakia is not an allelic disorder to Weill-Marchesani syndrome.

Keywords: linkage analysis • genetics