CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

Eur J Hum Genet. 2010 Oct;18(10):1107-13. doi: 10.1038/ejhg.2010.82. Epub 2010 Jun 9.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15*
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Disease Progression
  • Family Health
  • Gene Expression Regulation
  • Genes, Recessive
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Intellectual Disability / genetics
  • Lebanon
  • Molecular Sequence Data
  • Mutant Proteins / chemistry
  • Mutant Proteins / genetics
  • Mutant Proteins / metabolism
  • Mutation, Missense*
  • Spinocerebellar Degenerations / genetics
  • Zinc Fingers*


  • DNA-Binding Proteins
  • Genetic Markers
  • Mutant Proteins
  • ZNF592 protein, human

Supplementary concepts

  • Spinocerebellar ataxia, autosomal recessive 5

Associated data

  • GENBANK/BC094688
  • PDB/1X5W
  • RefSeq/NC_000015
  • RefSeq/NM_003027
  • RefSeq/NM_004644
  • RefSeq/NM_014630
  • RefSeq/NM_018200
  • RefSeq/NM_024580
  • RefSeq/NM_025238
  • RefSeq/NM_032246
  • RefSeq/NM_033634
  • RefSeq/NM_181877
  • RefSeq/NM_199330
  • RefSeq/NP_055445
  • RefSeq/NP_060667
  • RefSeq/NP_848822
  • RefSeq/XP_545869