Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

European Journal of Medical Genetics
Carlos VillamizarD M Milewicz

Abstract

Marfan syndrome (MFS) is an autosomal dominant condition with pleiotropic manifestations involving the skeletal, ocular, and cardiovascular systems. The diagnosis is based primarily on clinical involvement of these and other systems, referred to as the Ghent criteria. We have identified three Hispanic families from Mexico with cardiovascular and ocular manifestations due to novel FBN1 mutations but with paucity of skeletal features. The largest family, hMFS001, had a frameshift mutation in exon 24 (3075delC) identified as the cause of aortic disease in the family. Assessment of eight affected adults revealed no major skeletal manifestation of MFS. Family hMFS002 had a missense mutation (R1530C) in exon 37. Four members fulfilled the criteria for ocular and cardiovascular phenotype but lacked skeletal manifestations. Family hMFS003 had two consecutive missense FBN1 mutations (C515W and R516G) in exon 12. Eight members fulfilled the ocular criteria for MFS and two members had major cardiovascular manifestations, however none of them met criteria for skeletal system. These data suggest that individuals of Hispanic descent with FBN1 mutations may not manifest skeletal features of the MFS to the same extent as Caucasians. We recomme...Continue Reading

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Citations

Apr 12, 2015·International Journal of Cardiology·Chrishan J A RamachandraWinston Shim
Sep 3, 2011·American Heart Journal·Siddharth K PrakashDianna M Milewicz
Apr 5, 2014·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Arif O KhanCarsten Bergmann
Dec 2, 2015·Clinical Genetics·E S RegaladoD M Milewicz
Mar 7, 2019·Molecular Genetics & Genomic Medicine·Bo GongZhenglin Yang
Mar 25, 2021·Seminars in Vascular Surgery·Sherene ShalhubKarina Newhall
Sep 4, 2021·Nature Reviews. Disease Primers·Dianna M MilewiczReed E Pyeritz

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