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 | |
| 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
The FBN1 (R2726W) mutation is not fully penetrant. / Buoni, S.; Zannolli, R.; Macucci, F.; Ansaldi, S.; Grasso, M.; Arbustini, E.; Fois, A.
In: Annals of Human Genetics, Vol. 68, No. 6, 11.2004, p. 633-638.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The FBN1 (R2726W) mutation is not fully penetrant
AU - Buoni, S.
AU - Zannolli, R.
AU - Macucci, F.
AU - Ansaldi, S.
AU - Grasso, M.
AU - Arbustini, E.
AU - Fois, A.
PY - 2004/11
Y1 - 2004/11
N2 - 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.
AB - 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.
KW - Fibrillin gene
KW - High stature
KW - Marfanoid habitus
UR - http://www.scopus.com/inward/record.url?scp=11144273842&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=11144273842&partnerID=8YFLogxK
U2 - 10.1046/j.1529-8817.2004.00113.x
DO - 10.1046/j.1529-8817.2004.00113.x
M3 - Article
C2 - 15598221
AN - SCOPUS:11144273842
VL - 68
SP - 633
EP - 638
JO - Annals of Human Genetics
JF - Annals of Human Genetics
SN - 0003-4800
IS - 6
ER -