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Article

Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.

Investigative ophthalmology & visual science - 1 Apr 2006

Bidinost Carla, Matsumoto Masayuki, Chung Daniel, Salem Nabiha, Zhang Kang, Stockton David W, Khoury Antoine, Megarbane Andre, Bejjani Bassem A, Traboulsi Elias I

Abstract excerpt

PURPOSE: The PITX3 gene, which codes for a homeobox bicoidlike transcription factor is responsible for dominant cataract and anterior segment mesenchymal dysgenesis in humans. In the current study, a family with autosomal dominant posterior polar cataract (PPC) and a PITX3 mutation that cosegregates with the disease was examined. Also studied were two siblings who were homozygous for the PITX3 mutation who had...

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Source

Identifiers

PMID: 16565358
DOI: 10.1167/iovs.05-1095

Genes

PITX3

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.PMID 16565358Read ↗

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