A novel mutation in gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family.

Aim: To report a novel mutation in gene in a Chinese consanguineous family with common Marfan syndrome (MFS) phenotype and an unusual bilateral macular degeneration.

Methods: Ophthalmic, cardiovascular and systemic examinations were performed, and genomic DNA extracted from all living family members. The 24-32 exon mutations of gene were screened by Sanger Sequencing in all family members and 100 unrelated healthy Chinese individuals.

Results: In the four-generation family, classic MFS phenotypes were observed in all 5 patients, 2 of them had peculiar phenotype of bilateral macular degeneration. Mutation screening in identified a heterozygous missense mutation (c.3932A>G, p.Y1311C) with co-segregation. This mutation was found with the MFS phenotypes in all 5 patients but not in unaffected members or unrelated controls.

Conclusion: A Chinese consanguineous MFS family with uncommon bilateral macular degeneration and an unreported c.3932A>G mutation in was identified. Our finding expands the mutation spectrum and its possible role in the pathogenesis of Marfan syndrome.