Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children

M'barek, Ibtihel; Abroug, S.; Omezzine, Asma; Pawtowski, Audrey; Gubler, Marie–Claire; Bouslama, Ali; Harbi, A.; Antignac, Corinne

doi:10.1007/s00467-010-1694-8

Cited by 17 publications

(11 citation statements)

References 44 publications

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“…In the literature, other small frameshift variations in NPHS2 exon 8 have been described [2,[17][18][19][20][21]. Most of these appear as heterozygotes or compound heterozygotes and thus their specific function is difficult to determine.…”

Section: Discussionmentioning

confidence: 99%

Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern

et al. 2016

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Section: Discussionmentioning

confidence: 99%

Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern

et al. 2016

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“…According to renal histological findings, NS is classified by minimal change nephrotic (MCN), focal segmental glomerulosclerosis (FSGS) and diffuse mesangial sclerosis (DMS). Many genes ( NPHS1 , NPHS2 , WT1 , LAMB2 , CD2AP , α-ACT4 and PLCE1 ) have been identified and well documented in familial and sporadic NS cases34. In India, the two available studies have focussed on NPHS2 gene only56.…”

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confidence: 99%

Wilms′ tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome

et al. 2016

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Background & objectives:Clinically, nephrotic syndrome (NS) is a diverse group of symptoms; about 20 per cent of NS cases are resistant to steroid treatment, and within ten years they progress to end-stage renal disease. The present study was undertaken to identify the mutations of Wilms’ tumour 1 (WT1) gene in steroid-resistant NS (SRNS) children.Methods:A total of 173 children with SRNS and 100 children in the control group were enrolled in the study. DNA extraction was done, screened for WT1 (exons 8 and 9) gene amplified by polymerase chain reaction and direct sequencing. Karyotype analyses were done for WT1 mutation cases.Results:WT1 mutations were found in three of 173 SRNS cases (2 girls, 1 boy). All of them had intron 9 (IVS 9 + 4 C>T, 2; IVS + 5 G>A, 1) mutation. Of these three cases, one had familial and another two had sporadic history. Renal histology analysis showed two cases with focal segmental glomerulosclerosis (FSGS) and they had external female genitalia but 46, XY karyotype. Both of them had streak gonads. Of the three cases, one expired.Interpretation & conclusions:The findings of the present study indicate that all females with SRNS-FSGS should be screened for WT1 gene mutation to diagnose whether they have FS for possible gonadectomy.

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“…Previous large studies have also reported that no phenotypically normal boys without genitourinary malformations and Wilms' tumor display mutations within WT1 Aucella et al, 2006;Mucha et al, 2006;Cho et al, 2008;Mbarek et al, 2011). Only 3 boys with isolated NS have reportedly displayed WT1 mutations in studies (Takata et al, 2000;Chernin et al, 2010;Yang et al, 2013).…”

Section: Discussionmentioning

confidence: 97%

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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Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children

Cited by 17 publications

References 44 publications

Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern

Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern

Wilms′ tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome

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

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