Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Paired box 2

PAX2 encodes a transcription factor that among others regulates expression of the WT1 gene. Mutations cause autosomal dominant papillorenal syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Papillorenal syndrome
PAX2
Renal hypodysplasia/aplasia 1
DSTYK
ITGA8
PAX2
RET
UPK3A
Hereditary FSGS type 7
PAX2

References:

1.

Schimmenti LA et al. (1999) Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

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2.

Porteous S et al. (2000) Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.

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3.

Tellier AL et. al. (2000) Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.

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4.

Amiel J et al. (2000) PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.

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5.

Salomon R et al. (2001) PAX2 mutations in oligomeganephronia.

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6.

Ford B et al. (2001) Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.

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7.

Nishimoto K et al. (2001) PAX2 gene mutation in a family with isolated renal hypoplasia.

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8.

Chung GW et al. (2001) Renal-coloboma syndrome: report of a novel PAX2 gene mutation.

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9.

Eccles MR et al. (2002) PAX genes in development and disease: the role of PAX2 in urogenital tract development.

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10.

Gough SM et al. (2003) Refined physical map of the human PAX2/HOX11/NFKB2 cancer gene region at 10q24 and relocalization of the HPV6AI1 viral integration site to 14q13.3-q21.1.

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11.

Patek CE et al. (2003) Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis.

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12.

Cai Q et al. (2005) Pax2 expression occurs in renal medullary epithelial cells in vivo and in cell culture, is osmoregulated, and promotes osmotic tolerance.

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13.

Higashide T et al. (2005) Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.

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14.

Wu H et al. (2005) Hypomethylation-linked activation of PAX2 mediates tamoxifen-stimulated endometrial carcinogenesis.

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15.

Weber S et al. (2006) Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.

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16.

Hurtado A et al. (2008) Regulation of ERBB2 by oestrogen receptor-PAX2 determines response to tamoxifen.

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17.

Dressler GR et al. (1990) Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system.

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18.

Martinovic-Bouriel J et al. (2010) PAX2 mutations in fetal renal hypodysplasia.

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19.

Bower M et al. (2012) Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

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20.

Naito T et al. (1989) Nature of renal involvement in the acro-renal-ocular syndrome.

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21.

Weaver RG et al. (1988) Optic nerve coloboma associated with renal disease.

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22.

Ryan G et al. (1995) Repression of Pax-2 by WT1 during normal kidney development.

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23.

Sanyanusin P et al. (1995) Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

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24.

Ward TA et al. (1994) Alternative messenger RNA forms and open reading frames within an additional conserved region of the human PAX-2 gene.

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25.

Keller SA et al. (1994) Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus.

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26.

Stapleton P et. al. (1993) Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.

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27.

Pilz AJ et. al. (1993) Mapping of the human homologs of the murine paired-box-containing genes.

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28.

Schimmenti LA et al. (1995) Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

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29.

Sanyanusin P et al. (1995) Mutation of PAX2 in two siblings with renal-coloboma syndrome.

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30.

Sanyanusin P et al. (1996) Genomic structure of the human PAX2 gene.

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31.

Dehbi M et al. (1996) The paired-box transcription factor, PAX2, positively modulates expression of the Wilms' tumor suppressor gene (WT1).

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32.

Favor J et al. (1996) The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney.

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33.

Schimmenti LA et al. (1997) Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

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34.

Narahara K et al. (1997) Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.

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35.

Devriendt K et al. (1998) Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

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36.

Yang Y et al. (1999) WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis.

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Update: Sept. 26, 2018