Premium
Typical renal‐coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene
Author(s) -
Laimutis Kucinskas,
Jackson Craig,
Xu Xinjie,
Warman Berta,
Sarunas Rudaitis,
Andriuskeviciute Irena,
Birute Pundziene,
Schimmenti Lisa A.,
Raca Gordana
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35342
Subject(s) - comparative genomic hybridization , optic nerve hypoplasia , coloboma , hypoplasia , biology , strabismus , genetics , phenotype , gene , chromosome , anatomy
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. © 2012 Wiley Periodicals, Inc.