We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
- Authors
Nicolas, Elsa; Poitelon, Yannick; Chouery, Eliane; Salem, Nabiha; Levy, Nicolas; Mégarbané, André; Delague, Valérie
- Abstract
CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities. Using homozygosity mapping in a large inbred Lebanese Druze family, we previously reported the mapping of the disease gene at chromosome 15q24-q26 to a 3.6-cM interval between markers D15S206 and D15S199. Screening of candidate genes lying in this region led to the identification of a homozygous p.Gly1046Arg missense mutation in ZNF592, in all five affected individuals of the family. ZNF592 encodes a 1267-amino-acid zinc-finger (ZnF) protein, and the mutation, located within the eleventh ZnF, is predicted to affect the DNA-binding properties of ZNF592. Although the precise role of ZNF592 remains to be determined, our results suggest that ZNF592 is implicated in a complex developmental pathway, and that the mutation is likely to disturb the highly orchestrated regulation of genes during cerebellar development, by either disrupting interactions with target DNA or with a partner protein.
- Subjects
GENETIC mutation; CEREBELLUM diseases; HEREDITY; HUMAN genetics; GENE expression
- Publication
European Journal of Human Genetics, 2010, Vol 18, Issue 10, p1107
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2010.82