Curation SCA36 NOP56
12 + 1 = 13 / 18
Genetic evidence
Total: 12
Category | Type | Citation | Score | Details |
|---|---|---|---|---|
Singular Evidence | Probands | 6 | NOP56 GGCCTG repeat expansion identified in 37 individuals from 16 apparently unrelated families with SCA36 in an Eastern Spain ataxia cohort; most families showed autosomal dominant transmission. | |
Collective Evidence | Computational | 0.5 | Exome sequencing and SNP-array linkage analysis in two dominant ataxia families found chromosome 20 candidate regions including NOP56, with no rare coding ataxia-gene variants identified; RP-PCR/Southern blot then confirmed the intronic GGCCTG expansion. | |
Collective Evidence | Segregation | 1.5 | Affected individuals in two families shared linked chromosome 20 haplotypes consistent with autosomal dominant inheritance; the study notes maximum LOD was limited by pedigree power and used linkage to prioritize NOP56 expansion testing. | |
Statistics | Case-control data | 6 | Cohort screening identified NOP56 expansions in 16/297 hereditary ataxia pedigrees (5.4%) and 16/84 screened undiagnosed cerebellar ataxia families; no matched unaffected control group was reported in this study. |
Experimental evidence
Total: 1
Category | Type | Citation | Score | Details |
|---|---|---|---|---|
Function | Biochemical function | 0.5 | Gene-level, not SCA36 locus-specific: NOP56 is described as a core scaffolding component of box C/D snoRNP complexes involved in ribosomal RNA methylation; no biochemical assay of the SCA36 expansion was performed. | |
Function | Regulatory impact | 0.5 | Gene-level, not SCA36 locus-specific: siRNA depletion of NOP56 in HeLa cells altered U3/U8 snoRNA maturation levels, supporting a role in box C/D snoRNP biogenesis rather than an epigenetic effect of the SCA36 repeat. |