Severe Marfan syndrome due to FBN1 exon deletions

American Journal of Medical Genetics. Part a
Moira BlythDavid Bunyan

Abstract

Marfan syndrome is an autosomal dominant condition, with manifestations mainly in the skeletal, ocular, and cardiovascular systems. The disorder is caused by mutations in fibrillin-1 gene (FBN1). The majority of these are family-specific point mutations, with a small number being predicted to cause exon-skipping. To date, there have only been five reports of in-frame exon deletions in FBN1, with the largest of these spanning three exons. Mosaicism is rarely recorded and has only been reported in the unaffected, or mildly affected, parents of probands. Here, we report on the clinical histories of two children with exon deletions in FBN1. Both have severe Marfan syndrome with significant signs in infancy. One patient has a deletion of exon 33, which has not previously been reported. The other has the largest reported deletion, which spans 37 exons, and also represents the first reported case of mosaicism in a patient with Marfan syndrome.

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Citations

Nov 11, 2010·European Journal of Human Genetics : EJHG·Yvonne Hilhorst-HofsteeGerard Pals
Dec 20, 2011·Proceedings of the National Academy of Sciences of the United States of America·Natalina QuartoMichael T Longaker
Nov 26, 2015·European Journal of Medical Genetics·Elyssa CannaertsBart Loeys
Mar 29, 2014·American Journal of Medical Genetics. Part a·Antonín SípekTomáš Freiberger
Apr 3, 2016·Revista Española De Cardiología·Javier RekondoFernando Arós
Jan 27, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Pauline ArnaudNadine Hanna
Apr 30, 2021·Journal of Medical Genetics·Paula Fernández-ÁlvarezEduardo F Tizzano

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