A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome

作者：Hoefele Julia^*; Gabert Meike; Heinrich Uwe; Benz Kerstin; Rompel Oliver; Rost Imma; Klein Hanns Georg; Kunstmann Erdmute

来源：European Journal of Medical Genetics, 2012, 55(3): 211-215.

DOI：10.1016/j.ejmg.2012.01.011

• PAX2
• RCS
• Haploinsufficiency
• Coloboma
• Renal hypoplasia

Renal coloboma syndrome (RCS) is considered to be a rare autosomal dominant inherited disorder characterized by renal malformations and optic disc coloboma. Ocular anomalies range from asymptomatic abnormalities in retinal blood vessel patterning to large excavations of the optic nerve associated with reduced visual acuity. Commonly observed manifestations of the kidney are renal hypoplasia and vesicoureteric reflux leading to end-stage renal disease. Mutations in the PAX2 gene on chromosome 10 have been identified in patients with RCS. Up to date, nucleotide substitutions, insertions, small deletions, one de novo translocation, and one 240 kb deletion of the coding region of the PAX2 gene have been described to be responsible for RCS. %26lt;br%26gt;We report here a new case of a patient with RCS due to a deletion of 3.8 Mb on chromosome 10q. Deletions on the long arm of chromosome 10 harboring the PAX2 gene seem to be a rare cause for RCS. Nevertheless, array-CGH testing should represent an important and valuable addition to PAX2 gene sequencing in diagnostic of RCS.