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PITX2 and PITX3: Axenfeld-Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurological Impairment 

PITX2 and PITX3: Axenfeld-Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurological Impairment
Chapter:
PITX2 and PITX3: Axenfeld-Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurological Impairment
Author(s):

Linda M. Reis

and Elena V. Semina

DOI:
10.1093/med/9780199934522.003.0101
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date: 27 February 2021

PITX2 and PITX3 represent members of the PITX family of homeobox-containing transcription factors that play important roles in embryonic development in different species. In humans, PITX2 heterozygous nucleotide mutations or deletions result primarily in Axenfeld-Rieger syndrome, characterized by anterior segment anomalies of the eye in combination with systemic features. The majority of PITX2 nucleotide mutations affect the homeodomain region; the main mechanism for the condition is haploinsufficiency. PITX3 heterozygous nucleotide mutations are typically associated with congenital cataract, most commonly posterior polar type, with or without anterior segment dysgenesis. PITX3 homozygous mutations in two families resulted in cataract and severe bilateral microphthalmia (and neurodevelopmental abnormalities in one). The PITX3 mutations mostly affect the C-terminal region of the protein; partial loss of function was determined as a possible mechanism in one study.

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