부산대학교 도서관

Purpose: Weill-Marchesani syndrome is characterized by spherophakia, short stature, short hands/feet, joint stiffness, and occasional cardiac abnormalities. The phenotype can be caused by recessive ADAMTS10 mutations or heterozygous fibrillin-1 mutation. In contrast, isolated spherophakia with short stature has been associated with three different homozygous ADAMTS17 mutations in three families from Saudi Arabia. The purpose of this report is to determine the genetic cause of isolated spherophakia with short stature in two siblings from a consanguineous Saudi family. Methods: Clinical examination, homozygosity screen, and candidate gene analysis. Results: A brother and sister with high myopia were referred for genetic counseling. Ophthalmic examination revealed spherophakia in both and narrow angles in the sister. Axial lengths were not elongated. Although both had short stature, neither had short hands, short feet, joint stiffness, or non-ocular congenital abnormalities. Homozygosity analysis suggested the candidate gene ADAMTS17, which was found to harbor a novel homozygous mutation (p.Asp218Thr fsX41) that segregated with the phenotype. Conclusions: Recessive ADAMTS17 mutations are a recurrent cause of isolated spherophakia with short stature. In Saudi Arabia this phenotype shows allelic heterogeneity rather than founder effect. [ABSTRACT FROM AUTHOR]