Renal-coloboma syndrome: report of a novel PAX2 gene mutation.

Abstract

PURPOSE:

To report a novel sporadic PAX2 gene mutation in a child with atypical bilateral optic nerve coloboma and congenital renal hypoplasia.

DESIGN:

Observational case report and experimental study.

METHODS:

Mutational analysis of the PAX2 gene in a family.

RESULTS:

A 9-year-old patient with a history of renal transplantation for congenital renal hypoplasia was found to have bilateral optic nerve coloboma during ophthalmic examination for cytomegalovirus retinitis. A previously unreported mutation in exon 2, delT 602 leading to a prematurely truncated protein was identified in the child but in neither of her parents, demonstrating a de novo mutation or germline mosaicism.

CONCLUSIONS:

The causal relationship between PAX2 gene mutations and renal-coloboma syndrome is further supported by this novel mutation. Awareness of the systemic associations with optic nerve abnormalities and the ocular findings in syndromic renal diseases will facilitate the management of these highly variable disorders.

• Authors: G W Chung, A O Edwards, L A Schimmenti, G S Manligas, Y H Zhang, R Ritter 3rd
• Journal: American journal of ophthalmology (Am J Ophthalmol) Vol. 132 Issue 6 Pg. 910-4 (Dec 2001) ISSN: 0002-9394 [Print] United States
• PMID: 11730657 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• DNA-Binding Proteins
• PAX2 Transcription Factor
• PAX2 protein, human
• Transcription Factors

Topics

• Abnormalities, Multiple (genetics)
• Child
• Coloboma
• DNA Mutational Analysis
• DNA-Binding Proteins (genetics)
• Exons (genetics)
• Eye Abnormalities (genetics)
• Female
• Gene Deletion
• Humans
• Kidney (abnormalities)
• Mutation
• Optic Nerve (abnormalities)
• PAX2 Transcription Factor
• Pedigree
• Polymerase Chain Reaction
• Polymorphism, Single-Stranded Conformational
• Syndrome
• Transcription Factors (genetics)