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

2008; Elsevier BV; Volume: 83; Issue: 5 Linguagem: Inglês

10.1016/j.ajhg.2008.10.005

1537-6605

Abdul Noor, Christian Windpassinger, Megha Patel, Beata Stachowiak, Anna Mikhailov, Matloob Azam, Muhammad Irfan, Andrew D. Paterson, Muhammad Lutufullah, Dan Doherty, John B. Vincent, Muhammad Ayub,

Hedgehog Signaling Pathway Studies

(American Journal of Human Genetics 82, 1011–1018; April 2008) In our recent report,1Noor A. Windpassinger C. Patel M. Stachowiak B. Mikhailov A. Azam M. Irfan M. Siddiqui Z.K. Naeem F. Paterson A.D. et al.CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.Am. J. Hum. Genet. 2008; 82: 1011-1018Abstract Full Text Full Text PDF PubMed Scopus (72) Google Scholar 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 issue2Gorden N.T. Arts H.H. Parisi M.A. van Beersum S.E.C. Hikida A. Letteboer S.J.F. Eckert M. Coene K.L.M. Knutzen D. Mans D.A. et al.CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated, basal body protein CEP290.Am. J. Hum. Genet. 2008; 83 (this issue): 559-571Abstract Full Text Full Text PDF PubMed Scopus (178) Google Scholar). 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. CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis PigmentosaNoor et al.The American Journal of Human GeneticsApril 3, 2008In BriefAutosomal-recessive inheritance is believed to be relatively common in mental retardation (MR), although only four genes for nonsyndromic autosomal-recessive mental retardation (ARMR) have been reported. In this study, we ascertained a consanguineous Pakistani family with ARMR in four living individuals from three branches of the family, plus an additional affected individual later identified as a phenocopy. Retinitis pigmentosa was present in affected individuals, but no other features suggestive of a syndromic form of MR were found. Full-Text PDF Open Archive