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Joy Samanich

and Elaine Pereira

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date: 04 March 2021

PRRX1 is a paired mesoderm homeobox gene, and has been implicated in the human disease agnathia-otocephaly. PRRX1 has two isoforms, with differential expression in embryonic versus adult tissue. Three human patients have been described to date with unique mutations in this gene responsible for their phenotype. Though data from humans have been limited, there is significant evidence from animal models supporting the gene’s role in craniofacial development. Prrx1 null mouse models exhibit microcephaly, low-set ears, a pointed snout, and large clefts of the secondary palate. Additionally, mice have limb defects and some have spina bifida. Most mice die soon after birth of respiratory distress, which some attribute to their cleft palate, and others to defects in lung development. The gene has also been implicated in animal models in arthritis and scarless wound healing.

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