Skip to main content

Research Repository

Advanced Search

CC2D2A, Encoding a Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa (Addendum)

Noor, A.; Windpassinger, C.; Patel, M.; Stachowiak, B.; Mikhailov, A.; Azam, M.; Irfan, M.; Paterson, A.D.; Lutufullah, M.; Doherty, D.; Vincent, J.B.; Ayub, M.

Authors

A. Noor

C. Windpassinger

M. Patel

B. Stachowiak

A. Mikhailov

M. Azam

M. Irfan

A.D. Paterson

M. Lutufullah

D. Doherty

J.B. Vincent

M. Ayub



Abstract

In our recent report, 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). 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.

Citation

Noor, A., Windpassinger, C., Patel, M., Stachowiak, B., Mikhailov, A., Azam, M., …Ayub, M. (2008). CC2D2A, Encoding a Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa (Addendum). American Journal of Human Genetics, 83(5), https://doi.org/10.1016/j.ajhg.2008.10.005

Journal Article Type Article
Publication Date Nov 1, 2008
Deposit Date Jun 22, 2011
Journal American Journal of Human Genetics
Print ISSN 0002-9297
Publisher Cell Press
Peer Reviewed Peer Reviewed
Volume 83
Issue 5
DOI https://doi.org/10.1016/j.ajhg.2008.10.005

You might also like



Downloadable Citations