The FBN1 (R2726W) mutation is not fully penetrant

被引：17

作者：

Buoni, S

Zannolli, R

Macucci, F

Ansaldi, S

Grasso, M

Arbustini, E

Fois, A

机构：

[1] Univ Siena, Policlin Le Scotte, Sect Pediat, Dept Pediat Obstet & Reprod Med, I-53100 Siena, Italy

[2] Policlin San Matteo, Mol Diagnost Unit, Transplant Res Area, Res & Care Inst, I-27100 Pavia, Italy

来源：

ANNALS OF HUMAN GENETICS | 2004年 / 68卷

关键词：

fibrillin gene; marfanoid habitus; high stature;

D O I：

10.1046/j.1529-8817.2004.00113.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 FBNI R2776W mutation, which is associated with skeletal features of Marfin syndrome, appears incompletely penetrant. Consequently, genetic counselling in the presence of this mutation is difficult.

引用

页码：633 / 638

页数：6

共 14 条

[1] Marfan syndrome in the third Millennium [J].

Collod-Béroud, G ;

Boileau, C .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 (11) :673-681

[2]

DePaepe A, 1996, AM J MED GENET, V62, P417, DOI 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO

[3]

2-R

[4] MARFAN-SYNDROME CAUSED BY A RECURRENT DENOVO MISSENSE MUTATION IN THE FIBRILLIN GENE [J].

DIETZ, HC ;

CUTTING, GR ;

PYERITZ, RE ;

MASLEN, CL ;

SAKAI, LY ;

CORSON, GM ;

PUFFENBERGER, EG ;

HAMOSH, A ;

NANTHAKUMAR, EJ ;

CURRISTIN, SM ;

STETTEN, G ;

MEYERS, DA ;

FRANCOMANO, CA .

NATURE, 1991, 352 (6333) :337-339

[5]

EMERY AEH, 2002, PRINCIPLES PRACTICE, P3977

[6]

Marshall W. A., 1986, HUMAN GROWTH, VVol. 2, P171, DOI [10.1007/978-1-4899-0522-2_8, DOI 10.1007/978-1-4899-0522-2_8]

[7] A MUTATION IN FBN1 DISRUPTS PROFIBRILLIN PROCESSING AND RESULTS IN ISOLATED SKELETAL FEATURES OF THE MARFAN-SYNDROME [J].

MILEWICZ, DM ;

GROSSFIELD, J ;

CAO, SN ;

KIELTY, C ;

COVITZ, W ;

JEWETT, T .

JOURNAL OF CLINICAL INVESTIGATION, 1995, 95 (05) :2373-2378

[8]

NIJBROEK G, 1995, AM J HUM GENET, V57, P8

[9]

Palz M, 2000, AM J MED GENET, V91, P212, DOI 10.1002/(SICI)1096-8628(20000320)91:3<212::AID-AJMG12>3.0.CO

[10]

2-3

← 1 2 →