Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene.

American Journal of Medical Genetics. Part a
Kucinskas LaimutisGordana Raca

Abstract

We present a patient with optic nerve hypoplasia, secondary strabismus, mild deafness, abnormal external ear helices, and renal hypoplasia. The clinical phenotype was consistent with renal-coloboma syndrome, but no point mutation in the PAX2 gene could be identified. High-resolution array comparative genomic hybridization (aCGH) analysis showed that this patient has a submicroscopic deletion on chromosome 10, affecting the entire coding region of the PAX2 gene. This finding provided the molecular confirmation of the patient's clinical diagnosis and showed that, in addition to point mutations, deletions of the PAX2 gene contribute to the etiology of the renal-coloboma syndrome.

References

Nov 6, 1995·American Journal of Medical Genetics·L A SchimmentiW B Dobyns
Jul 1, 1996·Genomics·P SanyanusinM R Eccles
Jun 27, 2000·American Journal of Medical Genetics·A L TellierT Attié-Bitach
Jul 29, 2005·Journal of the American Society of Nephrology : JASN·Jeffery FletcherStephen I Alexander
Apr 4, 2007·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Elisa BenettiLuisa Murer
Aug 18, 2010·Cytogenetic and Genome Research·K S ReddyH Bass
Feb 3, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Gordana RacaLisa A Schimmenti
Jun 10, 2011·European Journal of Human Genetics : EJHG·Lisa A Schimmenti

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