A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis

被引：14

作者：

Hu, M

Craig, J

Howard, N

Kan, A

Chaitow, J

Little, D

Alexander, SI

机构：

[1] Childrens Hosp Westmead, Dept Nephrol, Ctr Kidney Res, Westmead, NSW 2145, Australia

[2] Childrens Hosp Westmead, Inst Endocrinol & Diabet, Westmead, NSW 2145, Australia

[3] Childrens Hosp Westmead, Dept Pathol, Westmead, NSW 2145, Australia

[4] Childrens Hosp Westmead, Dept Rheumatol, Westmead, NSW 2145, Australia

[5] ICPMR, Dept Forens Med, Westmead, NSW, Australia

来源：

PEDIATRIC NEPHROLOGY | 2004年 / 19卷 / 10期

关键词：

Denys-Drash syndrome; Frasier syndrome; missense mutation; Wilms tumor;

D O I：

10.1007/s00467-004-1564-3

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report a novel mutation in WT1 exon 9 (1214 A>G) resulting in an amino acid change from H to R at codon 405 in a 46 XY female patient who had congenital hypertrophic pyloric stenosis, pseudohermaphroditism masculinus, renal failure, and Wilms tumor, and died at the age of 22 months. The patient demonstrated the difficulty in diagnosing a patient with intersex before conclusive genetic characterization.

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收藏

页码：1160 / 1163

页数：4

相关论文

共 16 条

[1] CONGENITAL MESOBLASTIC NEPHROMA, NEPHROCALCINOSIS, AND HYPERTROPHIC PYLORIC-STENOSIS [J].

ANGULO, JC ;

LOPEZ, JI ;

ERENO, C ;

FLORES, N .

JOURNAL OF SURGICAL ONCOLOGY, 1991, 48 (02) :142-144

[2] THE EXPRESSION OF THE WILMS-TUMOR GENE, WT1, IN THE DEVELOPING MAMMALIAN EMBRYO [J].

ARMSTRONG, JF ;

PRITCHARDJONES, K ;

BICKMORE, WA ;

HASTIE, ND ;

BARD, JBL .

MECHANISMS OF DEVELOPMENT, 1993, 40 (1-2) :85-97

[3] CONGENITAL HYPERTROPHIC PYLORIC-STENOSIS AND ASSOCIATED ANOMALIES IN THE GENITOURINARY TRACT [J].

ATWELL, JD ;

LEVICK, P .

JOURNAL OF PEDIATRIC SURGERY, 1981, 16 (06) :1029-1035

[4] Donor splice-site mutations in WT1 are responsible for Frasier syndrome [J].

Barbaux, S ;

Niaudet, P ;

Gubler, MC ;

Grunfeld, JP ;

Jaubert, F ;

Kuttenn, F ;

Fekete, CN ;

SouleyreauTherville, N ;

Thibaud, E ;

Fellous, M ;

McElreavey, K .

NATURE GENETICS, 1997, 17 (04) :467-470

[5] ISOLATION AND CHARACTERIZATION OF A ZINC FINGER POLYPEPTIDE GENE AT THE HUMAN CHROMOSOME-11 WILMS TUMOR LOCUS [J].

CALL, KM ;

GLASER, T ;

ITO, CY ;

BUCKLER, AJ ;

PELLETIER, J ;

HABER, DA ;

ROSE, EA ;

KRAL, A ;

YEGER, H ;

LEWIS, WH ;

JONES, C ;

HOUSMAN, DE .

CELL, 1990, 60 (03) :509-520

[6] Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins [J].

Dharnidharka, VR ;

Ruteshouser, EC ;

Rosen, S ;

Kozakewich, H ;

Harris, HW ;

Herrin, JT ;

Huff, V .

PEDIATRIC NEPHROLOGY, 2001, 16 (03) :227-231

[7] A SYNDROME OF PSEUDOHERMAPHRODITISM, WILMS TUMOR, HYPERTENSION, AND DEGENERATIVE RENAL DISEASE [J].

DRASH, A ;

SHERMAN, F ;

HARTMANN, WH ;

BLIZZARD, RM .

JOURNAL OF PEDIATRICS, 1970, 76 (04) :585-+

[8] GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS [J].

FRASIER, SD ;

MOSIER, HD ;

BASHORE, RA .

JOURNAL OF PEDIATRICS, 1964, 64 (05) :740-+

[9] Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database [J].

Jeanpierre, C ;

Denamur, E ;

Henry, I ;

Cabanis, MO ;

Luce, S ;

Cécille, A ;

Elion, J ;

Peuchmaur, M ;

Loirat, C ;

Niaudet, P ;

Gubler, MC ;

Junien, C .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (04) :824-833

[10] 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-&