Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.

摘要: Background Autosomal dominant mutation of the FBN1 gene (fibrillin-1) results in a spectrum disease (type 1 fibrillopathies) ranging from Marfan syndrome with lens subluxation and cardiovascular complications to milder connective tissues phenotypes. The likelihood children referred ophthalmologists because is unclear. We report routine sequencing for inbred families nontraumatic without cataract or vitreoretinal degeneration. Methods Medical records such patients 2009 2012 were retrospectively reviewed. Results Eight identified probands (3-11 years old; 4 boys) consanguineous and/or endogamous Saudi Arabian all harbored mutation—7 autosomal recessive (homozygous). Four mutations novel. One child had family history subluxation. Seven facial skeletal features suggestive type fibrillinopathy. parents case confirmed be heterozygous carriers other clinical signs Conclusions fibrillinopathy was major cause this cohort despite fact that thus at higher risk disease. This highlights frequency new has important implications genetic counseling systemic assessment. represents fourth reported date. Her unaffected carriers, suggesting some can act as hypomorphic alleles rather than exhibiting negative effect typically attributed mutations.