Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Orofaciodigital syndrome 16

Oral-facial-digital syndrome type 16 is an autosomal recessive ciliopathy caused by mutations of the TMEM107 gene. It is characterized by skeletal, neuronal and visceral malformations.

Systematic

Orofaciodigital syndrome
Orofaciodigital syndrome 01
Orofaciodigital syndrome 04
Orofaciodigital syndrome 06
Orofaciodigital syndrome 16
TMEM107

References:

1.

Darmency-Stamboul V et. al. (2013) Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

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2.

Shylo NA et. al. (2016) TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.

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3.

Lambacher NJ et. al. (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

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Update: Oct. 11, 2018