The FBN1 (R2726W) mutation is not fully penetrant

S. Buoni; R. Zannolli; F. Macucci; S. Ansaldi; M. Grasso; E. Arbustini; A. Fois

doi:10.1046/j.1529-8817.2004.00113.x

The FBN1 (R2726W) mutation is not fully penetrant

S. Buoni, R. Zannolli, F. Macucci, S. Ansaldi, M. Grasso, E. Arbustini, A. Fois

IRCCS Fondazione Policlinico San Matteo

Research output: Contribution to journal › Article

Abstract

The R2726W mutation in the fibrillin 1 (FBN1, Marfan syndrome) gene segregates with isolated skeletal features of Marfan syndrome and/or high stature. Here we report a family in which two out of four individuals, an 18-year-old son and his mother, a 41-year-old woman, had the R2726W mutation of FBN1. Both family members carrying the mutation were of average height. The son had a Marfan-like phenotype, but his mother did not. The FBN1 R2776W mutation, which is associated with skeletal features of Marfan syndrome, appears incompletely penetrant. Consequently, genetic counselling in the presence of this mutation is difficult.

Original language	English
Pages (from-to)	633-638
Number of pages	6
Journal	Annals of Human Genetics
Volume	68
Issue number	6
DOIs	https://doi.org/10.1046/j.1529-8817.2004.00113.x
Publication status	Published - Nov 2004

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Keywords

Fibrillin gene
High stature
Marfanoid habitus

ASJC Scopus subject areas

Genetics(clinical)
Genetics

Cite this

Buoni, S., Zannolli, R., Macucci, F., Ansaldi, S., Grasso, M., Arbustini, E., & Fois, A. (2004). The FBN1 (R2726W) mutation is not fully penetrant. Annals of Human Genetics, 68(6), 633-638. https://doi.org/10.1046/j.1529-8817.2004.00113.x

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10.1046/j.1529-8817.2004.00113.x