The pathogenesis of the clinical features of oral-facial-digital syndrome type I

Authors

• Wael M. AlKattan, From the Department of Surgery (AlKattan), Alfaisal University, and the Departments of Surgery (Al-Qattan), Otolaryngology (Bafaqeeh), King Saud University, Riyadh, Kingdom of Saudi Arabia
• Mohammad M. Al-Qattan, From the Department of Surgery (AlKattan), Alfaisal University, and the Departments of Surgery (Al-Qattan), Otolaryngology (Bafaqeeh), King Saud University, Riyadh, Kingdom of Saudi Arabia
• Sameer A. Bafaqeeh, From the Department of Surgery (AlKattan), Alfaisal University, and the Departments of Surgery (Al-Qattan), Otolaryngology (Bafaqeeh), King Saud University, Riyadh, Kingdom of Saudi Arabia

Abstract

Oral-facial-digital syndrome type I (OFDI) is an X-linked syndrome, which has several craniofacial and limb features; and hence, patients frequently present to craniofacial and plastic surgeons. Oral-facial-digital syndrome type I is caused by mutations in the CXORF5 gene. The gene product is one of the basal body proteins of a slim microtubule-based organelle called the “primary cilium”. Most of the clinical features of OFDI patients are related to dysfunctions of the primary cilium leading to abnormal Hedgehog signal transduction, depressed planar cell polarity pathway, and errors in cell cycle control.

Article Type

Review

First Page

1277

Last Page

1284

Recommended Citation

AlKattan, Wael M.; Al-Qattan, Mohammad M.; and Bafaqeeh, Sameer A. (2015) "The pathogenesis of the clinical features of oral-facial-digital syndrome type I," Saudi Medical Journal: Vol. 36: Iss. 11, Article 3.
DOI: https://doi.org/10.15537/smj.2015.11.12446