DELETION OF THE TSC2 AND PKD1 GENES ASSOCIATED WITH SEVERE INFANTILE POLYCYSTIC KIDNEY-DISEASE - A CONTIGUOUS GENE SYNDROME

被引:370
作者
BROOKCARTER, PT
PERAL, B
WARD, CJ
THOMPSON, P
HUGHES, J
MAHESHWAR, MM
NELLIST, M
GAMBLE, V
HARRIS, PC
SAMPSON, JR
机构
[1] UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES
[2] JOHN RADCLIFFE HOSP, INST MOLEC MED, MRC, MOLEC HAEMATOL UNIT, OXFORD OX3 9DU, ENGLAND
基金
英国惠康基金;
关键词
D O I
10.1038/ng1294-328
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Major genes which cause tuberous sclerosis (TSC) and autosomal dominant polycystic kidney disease (ADPKD), known as TSC2 and PKD1 respectively, lie immediately adjacent to each other on chomosome 16p. Renal cysts are often found in TSC, but a specific renal phenotype, distinguished by the severity and infantile presentation of the cystic changes, is seen in a small proportion of cases. We have identified large deletions disrupting TSC2 and PKD1 in each of six such cases studied. Analysis of the deletions indicates that they inactivate PKD1, in contrast to the mutations reported in ADPKD patients, where in each case abnormal transcripts have been detected.
引用
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页码:328 / 332
页数:5
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