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The PITX3 gene in posterior polar congenital cataract in Australia

journal contribution
posted on 2023-05-16, 18:01 authored by Burdon, KP, McKay, JD, Wirth, MG, Russell-Eggit, IM, Bhatti, S, Ruddle, JB, Dimasi, D, David MackeyDavid Mackey, Craig, JE
Purpose: Congenital cataract is a significant cause of blindness worldwide. Many genes are known to cause the disorder. A large multigenerational pedigree was investigated for the genetic cause of a posterior polar autosomal dominant congenital cataract. Methods: A genome wide scan was conducted in a large multigenerational family with autosomal dominant cataract to identify the linked region of the genome. The PITX3 gene was investigated through direct sequencing and detection of fluorescently labeled PCR products. Results: Linkage was detected to a region of chromosome 10q23-26 which contains the candidate gene PITX3. A segregating 17 bp insertion mutation was identified. This mutation was not identified in 100 additional unrelated sporadic and familial congenital cataract patients. No mutations of the PITX3 gene were identified in 9 families with posterior polar congenital cataract. Conclusions: The 657ins17bp duplication of the PITX3 gene is the cause of the cataract phenotype in the large pedigree, however, this gene appears responsible for only a small proportion of congenital cataract in Australia. © 2006 Molecular Vision.

History

Publication title

Molecular Vision

Volume

12

Issue

42-45

Pagination

367-371

ISSN

1090-0535

Department/School

Menzies Institute for Medical Research

Publisher

Molecular Vision

Place of publication

Atlanta USA

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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