RT Journal Article
SR Electronic
T1 The pathogenesis of the clinical features of oral-facial-digital syndrome type I
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 1277
OP 1284
DO 10.15537/smj.2015.11.12446
VO 36
IS 11
A1 AlKattan, Wael M.
A1 Al-Qattan, Mohammad M.
A1 Bafaqeeh, Sameer A.
YR 2015
UL http://smj.org.sa/content/36/11/1277.abstract
AB 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.