Weill-Marchesani syndrome (WMS) is a well-characterized disorder in which 
patients develop eye and skeletal abnormalities. Autosomal-recessive and 
autosomal-dominant forms of WMS are caused by mutations in ADAMTS10 and FBN1 
genes, respectively. Here we report on 13 patients from seven unrelated families 
from the Arabian Peninsula. These patients have a constellation of features that 
fall within the WMS spectrum and follow an autosomal-recessive mode of 
inheritance. Individuals who came from two families and met the diagnostic 
criteria for WMS were each found to have a different homozygous missense 
mutation in ADAMTS10. Linkage analysis and direct sequencing of candidate genes 
in another two families and a sporadic case with phenotypes best described as 
WMS-like led to the identification of three homozygous mutations in the closely 
related ADAMTS17 gene. Our clinical and genetic findings suggest that ADAMTS17 
plays a role in crystalline lens zonules and connective tissue formation and 
that mutations in ADAMTS17 are sufficient to produce some of the main features 
typically described in WMS.