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| Repeat Disorders v1.3 | HSF1_ET_CCCCGCNCCGCCT_CCNCGCCT | Bryony Thompson HSF_ET_CCCCGCNCCGCCT_CCNCGCCT was changed to HSF1_ET_CCCCGCNCCGCCT_CCNCGCCT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v1.1 | HSF1_ET_CCCCGCNCCGCCT_CCNCGCCT |
Bryony Thompson STR: HSF1_ET_CCCCGCNCCGCCT/CCNCGCCT was added STR: HSF1_ET_CCCCGCNCCGCCT/CCNCGCCT was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: HSF1_ET_CCCCGCNCCGCCT/CCNCGCCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: HSF1_ET_CCCCGCNCCGCCT/CCNCGCCT were set to 40581632 Phenotypes for STR: HSF1_ET_CCCCGCNCCGCCT/CCNCGCCT were set to Essential tremor, MONDO:0003233 Review for STR: HSF1_ET_CCCCGCNCCGCCT/CCNCGCCT was set to GREEN Added comment: NOTE: bp rather than number of repeats is reported above PMID 40581632 reports 33 individuals (27 individuals >700bp) from 18 families with heterozygous intronic VNTR expansions (a combination of two VNTRs, (CCCCGCNCCGCCT)n/(CCNCGCCT)n) in intron 10 of HSF1 that co‑segregate with adult‑onset essential tremor; the expansion reduces HSF1 mRNA and protein levels and Drosophila HSF knockdown recapitulates a tremor phenotype, supporting a loss‑of‑function (haploinsufficiency) mechanism with incomplete penetrance. The study screened 165 Chinese ET pedigrees and 666 normal controls. Expanded VNTR alleles were highly enriched in ET-affected individuals, and the length of VNTRs was positively correlated with disease severity. Most controls had a HSF1 repeat expansion allele size <500 bp most affected individuals had an expansion >700 bp. Sources: Literature |
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