Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation

Yu, Zhongxin; Yang, Yuhui; Feng, Dong-ning

doi:10.1093/ckj/sfs030

Cited by 4 publications

(2 citation statements)

References 10 publications

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“…Recently, we identified an identical de novo heterozygous WT1 mutation, R394W, in a pair of Chinese female monozygotic twins. They presented with incomplete Denys-Drash syndrome and isolated SRNS (Yu et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome

Yang¹,

Zhao²,

Feng³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Mutations in the Wilms' tumor suppressor gene (WT1) can lead to syndromic forms of steroid-resistant nephrotic syndrome (SRNS) such as Denys-Drash or Frasier syndrome and can cause isolated SRNS. A mutation within WT1 is a frequent cause of sporadic isolated SRNS in girls. In a worldwide cohort of girls, the rate of occurrence was 10.8%. Previous reports have indicated that in Chinese girls, the detection rate of WT1 mutations is 16.7% for early onset isolated nephrotic syndrome. The detection rate of WT1 mutations in Chinese girls with sporadic isolated SRNS is unknown. We examined WT1 mutations in 14 Chinese girls with sporadic isolated SRNS using polymerase chain reaction and direct sequencing and studied a control group of 38 boys with sporadic isolated SRNS. We identified a WT1 mutation in 1 of 14 (7.1% detection rate) Chinese girls with sporadic 6185 ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 12 (4): 6184-6191 (2013) WT1 mutations in sporadic isolated SRNS isolated SRNS. No mutations occurred in WT1 in the remaining 13 girls or the control group. Our investigation supports the necessity of genetic examination for mutations in WT1 in girls with sporadic isolated SRNS.

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Section: Discussionmentioning

confidence: 99%

Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome

Yang¹,

Zhao²,

Feng³

et al. 2013

Genet. Mol. Res.

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“…To date, less than 150 cases have been described globally [ 5 ]. In China, such reports are more limited [ 6 , 7 , 8 ].…”

Section: Introductionmentioning

confidence: 99%

Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy

et al. 2023

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Frasier syndrome (FS) is a rare inherited disorder characterized by gonadal dysgenesis and progressive nephropathy, resulting from mutations in the intron 9 splice donor site of the Wilms tumor 1 (WT1) gene. It is associated with male gonadal dysgenesis (female external genitalia with a 46 XY karyotype), and a high risk of gonadoblastoma during adolescence. Patients with FS present early in childhood with proteinuria that progressively worsens with a high likelihood of end-stage renal disease (ESRD). Herein, we report a 15-year-old female (karyotype 46, XY) patient characterized by delayed puberty and steroid-resistant nephrotic syndrome, in whom whole genome sequencing showed a mutation in intron 9 of the WT1 gene, c.1447 + 4 C>T. This is the first case of FS with delayed puberty as the first complaint with no previous renal symptoms. We consider delayed puberty as an important manifestation of FS and summarize the diagnostic process of delayed puberty in the female phenotype. For clinicians, delayed puberty is a common disorder in pediatrics but requires vigilance for some rare causes. Etiological screening and chromosome karyotype analysis are important for the early diagnosis of FS in patients with delayed puberty.

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DENYS–DRASH SYNDROME, FRASIER SYNDROME, AND WAGR SYNDROME (WT1‐RELATED DISORDERS)

Turner

Dome

2020

Cassidy and Allanson's Management of Genetic Syndromes

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Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation

Cited by 4 publications

References 10 publications

Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome

Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome

Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy

DENYS–DRASH SYNDROME, FRASIER SYNDROME, AND WAGR SYNDROME (WT1‐RELATED DISORDERS)

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