Show Summary Details
Page of

PRRX1 

Chapter:
PRRX1
Author(s):

Joy Samanich

and Elaine Pereira

DOI:
10.1093/med/9780199934522.003.0106
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

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.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.