TTC8 — Tetratricopeptide Repeat Domain 8

Illustration of the eye cross-section showing the retina at the back of the eye
Illustration of the eye cross-section showing the retina at the back of the eye

TTC8 (BBS8) encodes a BBSome component with tetratricopeptide repeat domains. It is essential for BBSome assembly and ciliary trafficking. Mutations cause both Bardet-Biedl syndrome type 8 and non-syndromic retinitis pigmentosa (RP51), demonstrating the phenotypic spectrum of BBS gene mutations.

Gene description: TTC8 (BBS8) encodes a BBSome component with tetratricopeptide repeat domains. It is essential for BBSome assembly and ciliary trafficking. Mutations cause both Bardet-Biedl syndrome type 8 and non-syndromic retinitis pigmentosa (RP51), demonstrating the phenotypic spectrum of BBS gene mutations.

Clinical significance: Mutations cause BBS8 and non-syndromic RP51. This gene demonstrates that BBS gene mutations can cause isolated retinitis pigmentosa without other syndromic features.

Inheritance: Autosomal Recessive