Literature DB >> 15349765

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

Min Hu1, Jonathon Craig, Neville Howard, Alex Kan, Jeffrey Chaitow, Dianne Little, Stephen I Alexander.   

Abstract

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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Year:  2004        PMID： 15349765     DOI： 10.1007/s00467-004-1564-3

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


  15 in total

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

Authors:  V R Dharnidharka; E C Ruteshouser; S Rosen; H Kozakewich; H W Harris; J T Herrin; V Huff
Journal:  Pediatr Nephrol       Date:  2001-03       Impact factor: 3.714

2.  Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.

Authors:  V Schumacher; K Schärer; E Wühl; H Altrogge; K E Bonzel; M Guschmann; T J Neuhaus; R M Pollastro; E Kuwertz-Bröking; M Bulla; A M Tondera; P Mundel; U Helmchen; R Waldherr; A Weirich; B Royer-Pokora
Journal:  Kidney Int       Date:  1998-06       Impact factor: 10.612

3.  A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease.

Authors:  A Drash; F Sherman; W H Hartmann; R M Blizzard
Journal:  J Pediatr       Date:  1970-04       Impact factor: 4.406

4.  Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus.

Authors:  K M Call; T Glaser; C Y Ito; A J Buckler; J Pelletier; D A Haber; E A Rose; A Kral; H Yeger; W H Lewis
Journal:  Cell       Date:  1990-02-09       Impact factor: 41.582

Review 5.  A clinical overview of WT1 gene mutations.

Authors:  M Little; C Wells
Journal:  Hum Mutat       Date:  1997       Impact factor: 4.878

6.  Donor splice-site mutations in WT1 are responsible for Frasier syndrome.

Authors:  S Barbaux; P Niaudet; M C Gubler; J P Grünfeld; F Jaubert; F Kuttenn; C N Fékété; N Souleyreau-Therville; E Thibaud; M Fellous; K McElreavey
Journal:  Nat Genet       Date:  1997-12       Impact factor: 38.330

7.  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.

Authors:  C Jeanpierre; E Denamur; I Henry; M O Cabanis; S Luce; A Cécille; J Elion; M Peuchmaur; C Loirat; P Niaudet; M C Gubler; C Junien
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

8.  The expression of the Wilms' tumour gene, WT1, in the developing mammalian embryo.

Authors:  J F Armstrong; K Pritchard-Jones; W A Bickmore; N D Hastie; J B Bard
Journal:  Mech Dev       Date:  1993-01       Impact factor: 1.882

9.  Mutation and cancer: statistical study of retinoblastoma.

Authors:  A G Knudson
Journal:  Proc Natl Acad Sci U S A       Date:  1971-04       Impact factor: 11.205

10.  Congenital hypertrophic pyloric stenosis and associated anomalies in the genitourinary tract.

Authors:  J D Atwell; P Levick
Journal:  J Pediatr Surg       Date:  1981-12       Impact factor: 2.545
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  7 in total

Review 1.  Infantile hypertrophic pyloric stenosis--genetics and syndromes.

Authors:  Babette Peeters; Marc A Benninga; Raoul C M Hennekam
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2012-07-10       Impact factor: 46.802

2.  A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis.

Authors:  Elisa Benetti; Gianluca Caridi; Cristina Malaventura; Monica Dagnino; Emanuela Leonardi; Lina Artifoni; Gian Marco Ghiggeri; Silvio C E Tosatto; Luisa Murer
Journal:  Clin J Am Soc Nephrol       Date:  2010-02-11       Impact factor: 8.237

3.  A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis.

Authors:  Dong-Gi Lee; Deok Hyun Han; Kwan Hyun Park; Minki Baek
Journal:  Eur J Pediatr       Date:  2011-03-08       Impact factor: 3.183

4.  A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor.

Authors:  Monica Terenziani; Michele Sardella; Beatrice Gamba; Maria Adele Testi; Filippo Spreafico; Gianluigi Ardissino; Fausto Fedeli; Franca Fossati-Bellani; Paolo Radice; Daniela Perotti
Journal:  Pediatr Nephrol       Date:  2008-12-02       Impact factor: 3.714

5.  The association of prenatal and postnatal macrolide exposure with subsequent development of infantile hypertrophic pyloric stenosis: a systematic review and meta-analysis.

Authors:  Hamdi H Almaramhy; Abdulmohsen H Al-Zalabani
Journal:  Ital J Pediatr       Date:  2019-02-04       Impact factor: 2.638

6.  Spectrum of Clinical Manifestations in Children With WT1 Mutation: Case Series and Literature Review.

Authors:  Patricia Arroyo-Parejo Drayer; Wacharee Seeherunvong; Chryso P Katsoufis; Marissa J DeFreitas; Tossaporn Seeherunvong; Jayanthi Chandar; Carolyn L Abitbol
Journal:  Front Pediatr       Date:  2022-04-15       Impact factor: 3.418

7.  Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant.

Authors:  Maria Pia Falcone; Kathryn Pritchard-Jones; Jesper Brok; William Mifsud; Richard D Williams; Kayo Nakata; Suzanne Tugnait; Reem Al-Saadi; Lucy Side; John Anderson; Catriona Duncan; Stephen D Marks; Detlef Bockenhauer; Tanzina Chowdhury
Journal:  Pediatr Nephrol       Date:  2021-10-04       Impact factor: 3.651
  7 in total

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