Oral-facial-digital syndrome

Definition:

Oral-facial-digital syndrome is a group of heterogeneous disorders characterized by malformations of the face, oral cavity and digits. OFD type I is a male lethal disorder and due to mutations in the OFD1 gene on the X chromosome. OFD type IV is due to mutations in the TCTN3 gene and patients have tibial dysplasia. OFD type V is due to mutations in the DDX59 gene and patients show the core features of cleft palate, lobulated tongue, and polydactyly.

References:

[1]. Christel Thauvin-Robinet, et al. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Nat Genet. 2014 Aug;46(8):905-11. [Content Brief]

[2]. Hanan E Shamseldin, et al. Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. Am J Hum Genet. 2013 Sep 5;93(3):555-60. [Content Brief]

[3]. J Thevenon, et al. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. Clin Genet. 2016 Dec;90(6):509-517. [Content Brief]

[4]. Marina Macca, et al. The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):318-25. [Content Brief]

[5]. Michinori Toriyama, et al. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 Jun;48(6):648-56. [Content Brief]

[6]. Nils J Lambacher, et al. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nat Cell Biol. 2016 Jan;18(1):122-31. [Content Brief]

[7]. Sabrina Bimonte, et al. Ofd1 is required in limb bud patterning and endochondral bone development. Dev Biol. 2011 Jan 15;349(2):179-91. [Content Brief]

[8]. Sophie Thomas, et al. TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet. 2012 Aug 10;91(2):372-8. [Content Brief]

[9]. Véronique Chevrier, et al. OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. Hum Mol Genet. 2016 Feb 1;25(3):497-513. [Content Brief]

[10]. Véronique Darmency-Stamboul, et al. Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. Eur J Med Genet. 2013 Jun;56(6):301-8. [Content Brief]

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