Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: Further ophthalmologic delineation of the renal-coloboma syndrome

Lisa A. Schimmenti; Glenda S. Manligas; Paul A. Sieving

doi:10.1076/opge.24.4.191.17229

Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: Further ophthalmologic delineation of the renal-coloboma syndrome

Lisa A. Schimmenti, Glenda S. Manligas, Paul A. Sieving

Research output: Contribution to journal › Article › peer-review

26 Scopus citations

Abstract

Renal-coloboma syndrome, an autosomal dominant disorder associated with mutations in PAX2, is characterized by colobomatous eye defects, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and rarely central nervous system abnormalities. We identified a three-generation family with optic nerve colobomatous dysplasia and renal disease. We report the identification of a novel mutation in PAX2 in this family with renal-coloboma syndrome, Arg115X. We also report on the ocular and extraocular manifestations of PAX2 mutations for all cases of renal-coloboma syndrome reported to date.

Original language	English (US)
Pages (from-to)	191-202
Number of pages	12
Journal	Ophthalmic Genetics
Volume	24
Issue number	4
DOIs	https://doi.org/10.1076/opge.24.4.191.17229
State	Published - Dec 2003
Externally published	Yes

Bibliographical note

Funding Information:
This work was supported through the UCLA Academic Senate, the UCLA Child Health Research Center Award (NICHD) (LAS), Research to Prevent Blindness (partial support, LAS), and the Foundation Fighting Blindness (Hunt Valley, MD) (PAS). We are grateful for the generosity of Leslie and Susan Gonda. We thank Jennifer Kemp and Cara Coates for assistance in clinical data handling and family contacts.

Keywords

Coloboma
Congenital eye malformations
Optic nerve dysplasia
PAX2
Renal-coloboma syndrome

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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title = "Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: Further ophthalmologic delineation of the renal-coloboma syndrome",

abstract = "Renal-coloboma syndrome, an autosomal dominant disorder associated with mutations in PAX2, is characterized by colobomatous eye defects, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and rarely central nervous system abnormalities. We identified a three-generation family with optic nerve colobomatous dysplasia and renal disease. We report the identification of a novel mutation in PAX2 in this family with renal-coloboma syndrome, Arg115X. We also report on the ocular and extraocular manifestations of PAX2 mutations for all cases of renal-coloboma syndrome reported to date.",

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author = "Schimmenti, {Lisa A.} and Manligas, {Glenda S.} and Sieving, {Paul A.}",

note = "Funding Information: This work was supported through the UCLA Academic Senate, the UCLA Child Health Research Center Award (NICHD) (LAS), Research to Prevent Blindness (partial support, LAS), and the Foundation Fighting Blindness (Hunt Valley, MD) (PAS). We are grateful for the generosity of Leslie and Susan Gonda. We thank Jennifer Kemp and Cara Coates for assistance in clinical data handling and family contacts.",

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AU - Schimmenti, Lisa A.

AU - Manligas, Glenda S.

AU - Sieving, Paul A.

N1 - Funding Information: This work was supported through the UCLA Academic Senate, the UCLA Child Health Research Center Award (NICHD) (LAS), Research to Prevent Blindness (partial support, LAS), and the Foundation Fighting Blindness (Hunt Valley, MD) (PAS). We are grateful for the generosity of Leslie and Susan Gonda. We thank Jennifer Kemp and Cara Coates for assistance in clinical data handling and family contacts.

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AB - Renal-coloboma syndrome, an autosomal dominant disorder associated with mutations in PAX2, is characterized by colobomatous eye defects, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and rarely central nervous system abnormalities. We identified a three-generation family with optic nerve colobomatous dysplasia and renal disease. We report the identification of a novel mutation in PAX2 in this family with renal-coloboma syndrome, Arg115X. We also report on the ocular and extraocular manifestations of PAX2 mutations for all cases of renal-coloboma syndrome reported to date.

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KW - Optic nerve dysplasia

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Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: Further ophthalmologic delineation of the renal-coloboma syndrome

Abstract

Bibliographical note

Keywords

UN SDGs

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