TY - JOUR
T1 - Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene
AU - Laimutis, Kucinskas
AU - Jackson, Craig
AU - Xu, Xinjie
AU - Warman, Berta
AU - Sarunas, Rudaitis
AU - Andriuskeviciute, Irena
AU - Birute, Pundziene
AU - Schimmenti, Lisa A.
AU - Raca, Gordana
PY - 2012/6
Y1 - 2012/6
N2 - 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.
AB - 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.
KW - Deletion
KW - Haploinsufficiency
KW - PAX2 gene
KW - Renal-coloboma syndrome
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U2 - 10.1002/ajmg.a.35342
DO - 10.1002/ajmg.a.35342
M3 - Article
C2 - 22581475
AN - SCOPUS:84861222951
SN - 1552-4825
VL - 158 A
SP - 1437
EP - 1441
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 6
ER -