VON HIPPEL-LINDAU (VHL) DISEASE WITH PHEOCHROMOCYTOMA IN THE BLACK-FOREST REGION OF GERMANY - EVIDENCE FOR A FOUNDER EFFECT

被引：139

作者：

BRAUCH, H

KISHIDA, T

GLAVAC, D

CHEN, F

PAUSCH, F

HOFLER, H

LATIF, F

LERMAN, MI

ZBAR, B

NEUMANN, HPH

机构：

[1] NCI, FREDERICK CANC RES FACIL, IMMUNOBIOL LAB, FREDERICK, MD 21702 USA

[2] NATL INST CHEM, LJUBLJANA, SLOVENIA

[3] NCI, FREDERICK CANC RES & DEV CTR, PROGRAM RESOURCES INC DYNCORP, FREDERICK, MD 21702 USA

[4] UNIV FREIBURG, DEPT MED, DIV NEPHROL & HYPERTENS, D-79106 FREIBURG, GERMANY

来源：

HUMAN GENETICS | 1995年 / 95卷 / 05期

关键词：

D O I：

10.1007/BF00223868

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

We identified a germline missense mutation at nucleotide 505 (T to C) of the VHL tumor suppressor gene in 14, apparently unrelated, VHL type 2A families from the Black Forest region of Germany. This mutation was previously identified in two VHL 2A families living in Pennsylvania (USA). All affected individuals in the 16 families shared the same VHL haplotype indicating a founder effect. This missense mutation at codon 169 (Tyr to His) would probably cause an alteration in the structure of the putative VI-IL protein. The association of this distinct mutation with the pheochromocytoma phenotype in VHL may help to elucidate the genetic mechanism of carcinogenesis in this multi tumor cancer syndrome.

引用

页码：551 / 556

页数：6

共 24 条

[1]

GERMLINE MUTATIONS IN THE VONHIPPEL-LINDAU DISEASE TUMOR-SUPPRESSOR GENE - CORRELATIONS WITH PHENOTYPE [J].

CHEN, F ;

KISHIDA, T ;

YAO, M ;

HUSTAD, T ;

GLAVAC, D ;

DEAN, M ;

GNARRA, JR ;

ORCUTT, ML ;

DUH, FM ;

GLENN, G ;

GREEN, J ;

HSIA, YE ;

LAMIELL, J ;

LI, H ;

WEI, MH ;

SCHMIDT, L ;

TORY, K ;

KUZMIN, I ;

STACKHOUSE, T ;

LATIF, F ;

LINEHAN, WM ;

LERMAN, M ;

ZBAR, B .

HUMAN MUTATION, 1995, 5 (01) :66-75

[2]

CROSSEY PA, 1994, HUM MOL GENET, V3, P1303

[3]

POINT MUTATION WITHIN THE TYROSINE KINASE DOMAIN OF THE RET PROTOONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B AND RELATED SPORADIC TUMORS [J].

ENG, C ;

SMITH, DP ;

MULLIGAN, LM ;

NAGAI, MA ;

HEALEY, CS ;

PONDER, MA ;

GARDNER, E ;

SCHEUMANN, GFW ;

JACKSON, CE ;

TUNNACLIFFE, A ;

PONDER, BAJ .

HUMAN MOLECULAR GENETICS, 1994, 3 (02) :237-241

[4]

VONHIPPEL-LINDAU (VHL) DISEASE - DISTINCT PHENOTYPES SUGGEST MORE THAN ONE MUTANT ALLELE AT THE VHL LOCUS [J].

GLENN, GM ;

DANIEL, LN ;

CHOYKE, P ;

LINEHAN, WM ;

OLDFIELD, E ;

GORIN, MB ;

HOSOE, S ;

LATIF, F ;

WEISS, G ;

WALTHER, M ;

LERMAN, MI ;

ZBAR, B .

HUMAN GENETICS, 1991, 87 (02) :207-210

[5]

GLENN GM, 1990, PROBL UROL, V4, P312

[6]

MUTATIONS OF THE VHL TUMOR-SUPPRESSOR GENE IN RENAL-CARCINOMA [J].

GNARRA, JR ;

TORY, K ;

WENG, Y ;

SCHMIDT, L ;

WEI, MH ;

LI, H ;

LATIF, F ;

LIU, S ;

CHEN, F ;

DUH, FM ;

LUBENSKY, I ;

DUAN, DR ;

FLORENCE, C ;

POZZATTI, R ;

WALTHER, MM ;

BANDER, NH ;

GROSSMAN, HB ;

BRAUCH, H ;

POMER, S ;

BROOKS, JD ;

ISAACS, WB ;

LERMAN, MI ;

ZBAR, B ;

LINEHAN, WM .

NATURE GENETICS, 1994, 7 (01) :85-90

[7]

Jones Michael H., 1992, Human Molecular Genetics, V1, P131, DOI 10.1093/hmg/1.2.131

[8]

KANNO H, 1994, CANCER RES, V54, P4845

[9]

MUTATION AND CANCER - STATISTICAL STUDY OF RETINOBLASTOMA [J].

KNUDSON, AG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1971, 68 (04) :820-&

[10]

LAMIELL JM, 1989, MEDICINE, V68, P1

← 1 2 3 →