Steroid-resistant nephrotic syndrome and congenital anomalies of kidneys: Evidence of locus on chromosome 13q

Vats, Abhay; Ishwad, Chandra; Vats, Kalyani; Moritz, Michael L.; Ellis, Demetrius; Mueller, Christine M.; Surti, Urvashi; Parizhskaya, Maria; Meza, Manuel P.; Burke, Leah W.; Schneck, Francis X.; Saxena, Malika; Ferrell, Robert E.

doi:10.1046/j.1523-1755.2003.00066.x

Cited by 15 publications

(12 citation statements)

References 35 publications

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“…We identified children with severe VUR and renal failure from this last group that involves 13q33q34. Our previous studied had identified a region on 13q12q22 that is centromeric to the current critical region on 13q33q34, which was associated with CAKUT manifesting as obstructive uropathy but not VUR (22). There is no apparent overlap between these two distinct 13q loci associated with CAKUT.…”

Section: Discussionmentioning

confidence: 99%

“…All of these studies point to the genetic heterogeneity of CAKUT including VUR. We have identified several children with 13q deletion and recently reported a CAKUT-associated locus on 13q12-22 (22). We now describe the results of cyto-and molecular genetic studies to identify a second region on chromosome 13 that is located on 13q33-34 and is associated with CAKUT including severe VUR and RN.…”

mentioning

confidence: 97%

“…Microsatellite markers were analyzed after amplification by PCR. The PCR reactions were performed as described previously (22,24,25). PCR products were diluted 1:1 with loading buffer (95% deionized formamide, 20 mM EDTA, 0.025% xylene cyanol, and 0.025% bromophenol blue), heat-denatured, and electrophoresed through 7% polyacrylamide gel that contained 5.6 M urea and 32% formamide for 3 h at 55°C.…”

Section: Cytogenetic and Deletion Mapping Studiesmentioning

confidence: 99%

“…Genomic DNA was extracted from peripheral blood lymphocytes by proteinase K digestion and phenol-chloroform extraction for deletion mapping as described previously (22,24). Thirty-one microsatellite markers that spanned the 13q region were examined.…”

Section: Cytogenetic and Deletion Mapping Studiesmentioning

confidence: 99%

“…GTG banding was performed on peripheral blood lymphocytes from the proband and the parents using standard protocols as described previously (22,23). Genomic DNA was extracted from peripheral blood lymphocytes by proteinase K digestion and phenol-chloroform extraction for deletion mapping as described previously (22,24).…”

Section: Cytogenetic and Deletion Mapping Studiesmentioning

confidence: 99%

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A Locus for Renal Malformations Including Vesico-Ureteric Reflux on Chromosome 13q33–34

Vats¹,

Ishwad²,

Singla³

et al. 2006

Journal of the American Society of Nephrology

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Congenital anomalies of kidney and urinary tract (CAKUT), including vesico-ureteric reflux (VUR), are major causes of ESRD in childhood. Herein is reported evidence for a locus on 13q33q34 associated with CAKUT. Deletion mapping of chromosome 13q was performed in four children with CAKUT using 31 microsatellite markers on peripheral blood genomic DNA that was obtained from the patients and their parents. mRNA expression of the positional candidate genes was compared with sequences in electronic databases in silico and also studied in adult and fetal mouse kidneys using reverse transcription-PCR. The children (three girls; age range 5 to 17 yr) had varying severity of developmental delay and other organ system involvement. The spectrum of CAKUT included high-grade VUR (n ‫؍‬ 2), renal dysplasia (n ‫؍‬ 2), and hydronephrosis (n ‫؍‬ 1). Both the children with VUR had evidence of renal failure with one of them developing ESRD. Deletion mapping identified a 7-Mb critical region flanked by markers D13S1311 and D13S285. There are 33 genes (12 known; 21 computer predicted) in this region. In silico expression studies showed matches for 14 of these genes in the kidneys and 10 in the bladder expressed sequenced tags databases. Mouse kidney studies showed that of the 24 genes examined, several had variable expression through the different stages of renal development, whereas five of the genes were not expressed at all. Herein is reported a new locus on chromosome 13q33q34 that can be associated with VUR with several genes showing mRNA expression patterns that suggest their potential for involvement in renal/urinary tract developmental anomalies.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 97%

Section: Cytogenetic and Deletion Mapping Studiesmentioning

confidence: 99%

Section: Cytogenetic and Deletion Mapping Studiesmentioning

confidence: 99%

Section: Cytogenetic and Deletion Mapping Studiesmentioning

confidence: 99%

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A Locus for Renal Malformations Including Vesico-Ureteric Reflux on Chromosome 13q33–34

Vats¹,

Ishwad²,

Singla³

et al. 2006

Journal of the American Society of Nephrology

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Axenfeld–Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion

Roche

Mora

Pérez

et al. 2009

Pediatric Blood & Cancer

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Axenfeld-Rieger (AR) ocular anomaly might be due to deletions of different chromosomes. No association between AR, mental retardation, and retinoblastoma has been described. We report a 2-month-old female with general development delay and dysmorphic features. AR anomaly was detected, and a retinoblastoma (RB) was diagnosed in a very early stage. De novo 13q deletion was identified. Systemic chemotherapy, focal cryotherapy, transpupillary thermotherapy, brachytherapy, and intra-arterial chemotherapy were needed to control the RB. This is the first report of an association of AR, 13q deletion, and retinoblastoma, to be disclosed in patients born with such ocular and dysmorphic features.

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C1q nephropathy in a child with a chromosome 13 deletion

et al. 2006

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Steroid-resistant nephrotic syndrome and congenital anomalies of kidneys: Evidence of locus on chromosome 13q

Abstract: We report an association of chromosome 13q with CAKUT as well as SRNS. Our studies suggest the presence of more than one gene in this region that is likely to be involved in renal development and function.

Cited by 15 publications

References 35 publications

A Locus for Renal Malformations Including Vesico-Ureteric Reflux on Chromosome 13q33–34

A Locus for Renal Malformations Including Vesico-Ureteric Reflux on Chromosome 13q33–34

Axenfeld–Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion

C1q nephropathy in a child with a chromosome 13 deletion

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