Identification of a novel FBN1 splice site mutation in a large Italian pedigree with Marfan syndrome provides a basis for studying genetic modifiers of the disease.
Should not change Marfan management; leaves open study of this FBN1 variant as a phenotypic modifier.
We characterize a large Italian family presenting with Marfan syndrome (MFS), where the same NM_000138.4:c.6872-1G > T splice site mutation in the FBN1 gene was detected in 37 affected individuals with different pathological phenotypes. Further studies on such a large pedigree could identify other genetic factors that influence MFS manifestation.
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Daneshjoo et al. (2020) studied this question.
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