PAX2
MIM.167409 10q24.3-q25.1
Expression
renal medullary epithelial cells (15623552)
Pathology
germline mutations of APX2 in
- optic disk dysplasia
- bilateral colobomatous disk anomaly
- foveal hypoplasia
- pigmented macular atrophy
- macular anomalies (15652857)
- optic disk anomalies (15652857)
- bilateral colobomatous disk anomaly
- horizontal nystagmus
- poor visual acuity
- foveal hypoplasia
- bilaterally impaired vision
- optic disk dysplasia
- foveolar hypoplasia
renal anomalies
- chronic renal failure
- renal dysfunction
- oligomeganephronia (11168927)
- isolated renal hypoplasia (11461952, 10587573)
- associated renal hypoplasia
- papillorenal syndrome (renal-coloboma syndrome) (MIM.120330) (11093271, 11730657, 9760197, 8943028, 9132492, 8589702, 7795640)
Chiari 1 malformation (10533062)
See also
References
Stayner C, Iglesias DM, Goodyer PR, Ellis L, Germino G, Zhou J, Eccles MR. Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease. Hum Mol Genet. 2006 Dec 15;15(24):3520-8. PMID: 17082250
Kozmik Z. Pax genes in eye development and evolution. Curr Opin Genet Dev. 2005 Aug;15(4):430-8. PMID: 15950457
Eccles, M. R.; He, S.; Legge, M.; Kumar, R.; Fox, J.; Zhou, C.; French, M.; Tsai, R. W. S. : PAX genes in development and disease: the role of PAX2 in urogenital tract development. Int. J. Dev. Biol. 46: 535-544, 2002. PubMed ID : 12141441
Murer L, Caridi G, Della Vella M, Montini G, Carasi C, Ghiggeri G, Zacchello G. Expression of nuclear transcription factor PAX2 in renal biopsies of juvenile nephronophthisis. Nephron. 2002 Aug;91(4):588-93. PMID: 12138259
Salomon R, Tellier AL, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P, Niaudet P, Gubler MC, Broyer M. PAX2 mutations in oligomeganephronia. Kidney Int. 2001 Feb;59(2):457-62. PMID: 11168927