CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

Abstract

In our recent report, 1 brain magnetic resonance imaging (MRI) data for the oldest (male) and the youngest (female) affected members of the Mianwali family were used to initially diagnose the patients with nonsyndromic mental retardation. Although the molar tooth sign (MTS) was observed in the MRI of the female, suggesting a Joubert syndrome-related disorder (JSRD, MIM 213300), a diagnosis of JSRD was overruled because of the lack of any other obvious JSRD features. We have since reviewed the MRI images with D. Doherty (University of Washington), and midhindbrain features typical of JSRD, including the MTS, are present in both of these individuals (Figure 4E in Gorden et al., this issue 2 ). This information, together with data from the JSRD families described by Gorden et al., would suggest that the mutation in CC2DA in our Mianwali family is most likely a cause of a form of JSRD.

A coiled-coil- and C2-domain-containing protein is required for FAZ assembly and cell morphology in Trypanosoma brucei

“…This protein was therefore named CC2D, standing for coiled-coil-and C2-domain-containing protein. Proteins with similar domain organization have also been found in other organisms, and the human CC2D2A protein has been located to the cilia basal bodies and been implicated in ciliogenesis and human ciliary diseases (Doherty, 2009;Gorden et al, 2008;Mougou-Zerelli et al, 2009;Noor et al, 2008;Tallila et al, 2008).…”

Human Genetic Disorders of Axon Guidance

“…JSRD is genetically heterogeneous, and at least nine loci and seven genes (AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, and CC2D2A) have been identified to date (DixonSalazar et al 2004;Ferland et al 2004;Parisi et al 2004a;Sayer et al 2006;Arts et al 2007;Baala et al 2007;Delous et al 2007;Cantagrel et al 2008;Gorden et al 2008;Noor et al 2008). Failure of the SCP and CST to decussate has been documented in patients harboring mutations in AHI1, CEP290, and at least two additional JS genes (Poretti et al 2007).…”

The role of primary cilia in the development and disease of the retina

“…43 Mutations in CC2D2A in humans lead to RP, often as part of multi-organ syndromes. [44][45][46] Growth of the microtubule axoneme is dependent on chaperone proteins such as prefoldin-5 that, when mutated in mice, leads to photoreceptor degeneration. 47 Other chaperones including HSC70 (Hspa8) have also been found to be associated with photoreceptor axonemal proteins.…”