ArticleEuropean journal of human genetics : EJHG2010
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 35 citations in OpenAlex.
- Intrinsically Disordered Regions of Zinc Finger Protein 687 in Phase Separation: A Potentially Pathogenic Driver of Paget's Disease of Bone.ACS pharmacology & translational science · 2025Review
- Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.American journal of human genetics · 2025Article
- Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.Molecular neurodegeneration · 2024Article
- Loss-of-function of the Zinc Finger Homeobox 4 (medRxiv : the preprint server for health sciences · 2024Article
- Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy.medRxiv : the preprint server for health sciences · 2024Article
- Alternative polyadenylation transcriptome-wide association study identifies APA-linked susceptibility genes in brain disorders.Nature communications · 2023Article
- Genetics of neurosarcoidosis.Journal of neuroimmunology · 2022Review
- Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts.Journal of clinical medicine · 2020Review
- SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.Neuro-degenerative diseases · 2017Article
- In Silico Functional Annotation of Genomic Variation.Current protocols in human genetics · 2016Review
- CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes.Molecular cytogenetics · 2016Article
- WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.Human mutation · 2015Article
- Fine mapping of chromosome 15q25 implicates ZNF592 in neurosarcoidosis patients.Annals of clinical and translational neurology · 2015Article
- PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.Brain : a journal of neurology · 2015Article
- A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23.Case reports in neurology · 2014Article
- Whole-genome resequencing of Hanwoo (Korean cattle) and insight into regions of homozygosity.BMC genomics · 2013Article
- Genetic variation in the epigenetic machinery and mental health.Current psychiatry reports · 2012Review
- The balance of expression of PTPN22 splice forms is significantly different in rheumatoid arthritis patients compared with controls.Genome medicine · 2012Article
- Human genetics and genomics a decade after the release of the draft sequence of the human genome.Human genomics · 2011Review
- Regions of homozygosity and their impact on complex diseases and traits.Human genetics · 2011Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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