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Digenic inheritance of STUB1variants and TBPpolyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
- Source :
- Genetics in Medicine; January 2022, Vol. 24 Issue: 1 p29-40, 12p
- Publication Year :
- 2022
-
Abstract
- This study aimed to unravel the genetic factors underlying missing heritability in spinocerebellar ataxia type 17 (SCA17) caused by polyglutamine-encoding CAG/CAA repeat expansions in the TBPgene. Alleles with >49 CAG/CAA repeats are fully penetrant. Most patients, however, carry intermediate TBP41-49alleles that show incomplete penetrance.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Volume :
- 24
- Issue :
- 1
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs58800167
- Full Text :
- https://doi.org/10.1016/j.gim.2021.08.003