A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys

A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys–Drash syndrome

Published:2011-08 Issue:8 Volume:26 Page:1311-1315
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

da Silva Thatiana Evilen,Nishi Mirian Yumie,Costa Elaine Maria Frade,Martin Regina Matsunaga,Carvalho Filomena Marino,Mendonca Berenice Bilharinho,Domenice Sorahia

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-011-1847-4.pdf

Reference16 articles.

1. Little M, Wells C (1997) A clinical overview of WT1 gene mutations. Hum Mutat 9:209–225

2. Barbaux S, Niaudet P, Gubler M, Grünfeld J, Jaubert F, Kuttenn F, Fékété C, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K (1997) Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 17:467–470

3. Drash A, Sherman F, Hartmann W, Blizzard R (1970) A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease. J Pediatr 76:585–593

4. Heathcott R, Morison I, Gubler M, Corbett R, Reeve A (2002) A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X. Hum Mutat 19:462

5. Miller S, Dykes D, Polesky H (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215

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3. DENYS–DRASH SYNDROME, FRASIER SYNDROME, AND WAGR SYNDROME ( WT1 ‐RELATED DISORDERS);Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

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5. Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis;Clinical Endocrinology;2018-05-23