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

Nicolas, Elsa; Poitelon, Yannick; Chouery, Éliane; Salem, Nabiha; Levy, Nicolas; Mégarbané, André; Delague, Valérie

doi:10.1038/ejhg.2010.82

Cited by 29 publications

(19 citation statements)

References 36 publications

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“…Clinical features may be complicated with gait spasticity, peripheral neuropathy, hearing impairment or optic atrophy. There are at least five forms of ARCA associating cerebellar ataxia with visual impairment: (i) CAMOS (Cerebellar Ataxia associated with Mental retardation, Optic atrophy and Skin abnormalities), a rare non-progressive cerebellar ataxia syndrome, originally identified in a Lebanese family [1] and caused by a mutant zinc-finger protein, ZNF592 [2]; (ii) IOSCA (Infantile Onset SpinoCerebellar Ataxia), a severe neurodegenerative disorder that manifests at the age of 9–18 months in previously healthy infants, due to mutations in genes encoding mitochondrial proteins Twinkle and Twinky [3]; (iii) Refsum’s disease, a hereditary motor sensory neuropathy associated with mutations in PHYH causing the accumulation of phytanic acid in plasma and lipid-containing tissues [4]; (iv) Boucher-Neuhäuser syndrome, or more broadly the spectrum of PNPLA6 -related diseases [5] and (v) Nyssen-van Bogaert syndrome with a still unknown genetic origin. Recently, Abrams et al [6] reported four mutations in SLC25A46 associated with Charcot-Marie-Tooth type 2 and optic atrophy.…”

Section: Introductionmentioning

confidence: 99%

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

et al. 2017

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Background: Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with high clinical and genetic heterogeneity. In most cases, the cerebellar ataxia is not pure, and complicating clinical features such as pyramidal signs or extraneurological features are found. Objective: To identify the genetic origin of the cerebellar ataxia for 3 consanguineous North African families presenting with ARCA. Methods: Genome-wide high-density SNP genotyping and whole-exome sequencing were performed followed by Sanger sequencing for mutation confirmation. Results: Two variants were identified in SLC25A46. Mutations in this gene have been previously associated with Charcot-Marie-Tooth type 2 and optic atrophy. While the previously reported variant p.Arg340Cys seems to be consistently associated with the same clinical features such as childhood onset, optic atrophy, gait and speech difficulties, and wasting of the lower limbs, the patient with the novel mutation p.Trp160Ser did not present with optic atrophy and his ocular abnormalities were limited to nystagmus and saccadic pursuit. Conclusion: In this study, we report a novel variant (p.Trp160Ser) in SLC25A46 and we broaden the phenotypic spectrum associated with mutations in SLC25A46.

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Section: Introductionmentioning

confidence: 99%

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

et al. 2017

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“…Specifically, it had a coefficient of variation that was at the 0.01th percentile of variation among all surveyed transcripts (Table S2 in Additional file 2). Consistent with this finding, other groups have independently characterized ZNF592 as a ubiquitously expressed transcript in a panel of 24 adult human tissues by semi-quantitative PCR and northern blotting [18]. Expression measurements were made using the delta-delta relative quantification method according to the Applied Biosystems protocol.…”

Section: Methodsmentioning

confidence: 85%

The balance of expression of PTPN22 splice forms is significantly different in rheumatoid arthritis patients compared with controls

et al. 2012

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BackgroundThe R620W variant in protein tyrosine phosphatase non-receptor 22 (PTPN22) is associated with rheumatoid arthritis (RA). The PTPN22 gene has alternatively spliced transcripts and at least two of the splice forms have been confirmed to encode different PTPN22 (LYP) proteins, but detailed information regarding expression of these is lacking, especially with regard to autoimmune diseases.MethodsWe have investigated the mRNA expression of known PTPN22 splice forms with TaqMan real-time PCR in relation to ZNF592 as an endogenous reference in peripheral blood cells from three independent cohorts with RA patients (n = 139) and controls (n = 111) of Caucasian origin. Polymorphisms in the PTPN22 locus (25 SNPs) and phenotypic data (gender, disease activity, ACPA and RF status) were used for analysis. Additionally, we addressed possible effects of methotrexate treatment on PTPN22 expression.ResultsWe found consistent differences in the expression of the PTPN22 splice forms in unstimulated peripheral blood mononuclear cells between RA patients and normal controls. This difference was more pronounced when comparing the ratio of splice forms and was not affected by methotrexate treatment.ConclusionsOur data show that RA patients and healthy controls have a shift in balance of expression of splice forms derived from the PTPN22 gene. This balance seems not to be caused by treatment and may be of importance during immune response due to great structural differences in the encoded PTPN22 proteins.

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“…Example : Chr15:85,342,440 (rs150829393) – a G to A change alters the GGG (glycine) to an AGG (arginine) at residue 1046 of the canonical protein coding transcript of the ZNF592 gene. This amino acid change is associated with Spinocerebellar ataxia (Delague et al, ; Nicolas et al, ).…”

Section: Algorithmic Approaches To Genomic Annotationmentioning

confidence: 99%

In Silico Functional Annotation of Genomic Variation

Butkiewicz

Bush

2016

CP Human Genetics

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This unit describes the concepts and practical techniques for annotating genomic variants in the human genome to estimate their functional significance. With the rapid increase of available whole exome and whole genome sequencing information for human studies, annotation techniques have become progressively more important for highlighting and prioritizing nucleotide variants and their potential impact on genes and other genetic constructs. Here, we present an overview of different types of variant annotation approaches and elaborate on their foundations, assumptions, and the downstream consequences of their use. Computational approaches and tools to assign annotations and to identify variants are reviewed. Further, the general philosophy of assigning potential function to a genetic change within the biological contexts of a disease is discussed.

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

Cited by 29 publications

References 36 publications

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

The balance of expression of PTPN22 splice forms is significantly different in rheumatoid arthritis patients compared with controls

In Silico Functional Annotation of Genomic Variation

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