Non-penetrance in tuberous sclerosis

被引：34

作者：

Osborne, JP

Jones, AC

Burley, MW

Jeganathan, D

Young, J

O'Callaghan, FJ

Sampson, JR

Povey, S

机构：

[1] Royal United Hosp, Bath Unit Res Paediat, Bath BA1 3NG, Avon, England

[2] Cardiff Univ, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales

[3] UCL, MRC, Human Biochem Genet Unit, London WC1E 6BT, England

来源：

LANCET | 2000年 / 355卷 / 9216期

关键词：

D O I：

10.1016/S0140-6736(00)02247-9

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

As a result of extreme clinical variability in tuberous sclerosis, with one well-documented example of non-penetrance, phenotypically normal siblings or children of patients with tuberous sclerosis are thought to be at increased risk of having children with the disease. We report that the case of apparent non-penetrance that was previously described is the result of two independent tuberous-sclerosis mutations in the same family.

引用

页码：1698 / 1698

页数：1

共 5 条

[1]

NELLIST M, 1993, CELL, V75, P1305

[2] 2-LOCI FOR TUBEROUS-SCLEROSIS - ONE ON 9Q34 AND ONE ON 16P13 [J].

POVEY, S ;

BURLEY, MW ;

ATTWOOD, J ;

BENHAM, F ;

HUNT, D ;

JEREMIAH, SJ ;

FRANKLIN, D ;

GILLETT, G ;

MALAS, S ;

ROBSON, EB ;

TIPPETT, P ;

EDWARDS, JH ;

KWIATKOWSKI, DJ ;

SUPER, M ;

MUELLER, R ;

FRYER, A ;

CLARKE, A ;

WEBB, D ;

OSBORNE, J .

ANNALS OF HUMAN GENETICS, 1994, 58 :107-127

[3] Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34 [J].

vanSlegtenhorst, M ;

deHoogt, R ;

Hermans, C ;

Nellist, M ;

Janssen, B ;

Verhoef, S ;

Lindhout, D ;

vandenOuweland, A ;

Halley, D ;

Young, J ;

Burley, M ;

Jeremiah, S ;

Woodward, K ;

Nahmias, J ;

Fox, M ;

Ekong, R ;

Osborne, J ;

Wolfe, J ;

Povey, S ;

Snell, RG ;

Cheadle, JP ;

Jones, AC ;

Tachataki, M ;

Ravine, D ;

Sampson, JR ;

Reeve, MP ;

Richardson, P ;

Wilmer, F ;

Munro, C ;

Hawkins, TL ;

Sepp, T ;

Ali, JBM ;

Ward, S ;

Green, AJ ;

Yates, JRW ;

Kwiatkowska, J ;

Henske, EP ;

Short, MP ;

Haines, JH ;

Jozwiak, S ;

Kwiatkowski, DJ .

SCIENCE, 1997, 277 (5327) :805-808

[4] NON-PENETRANCE IN TUBEROUS SCLEROSIS [J].

WEBB, DW ;

OSBORNE, JP .

JOURNAL OF MEDICAL GENETICS, 1991, 28 (06) :417-419

[5] A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients [J].

Young, JM ;

Burley, MW ;

Jeremiah, SJ ;

Jeganathan, D ;

Ekong, R ;

Osborne, JP ;

Povey, S .

ANNALS OF HUMAN GENETICS, 1998, 62 :203-213

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