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

Kucinskas Laimutis, Craig Jackson, Xinjie Xu, Berta Warman, Rudaitis Sarunas, Irena Andriuskeviciute, Pundziene Birute, Lisa A. Schimmenti, Gordana Raca

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1437-1441
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number6
DOIs
StatePublished - Jun 2012

Keywords

  • Deletion
  • Haploinsufficiency
  • PAX2 gene
  • Renal-coloboma syndrome

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