A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.
Hum Genet
; 96(4): 417-22, 1995 Oct.
Article
in En
| MEDLINE
| ID: mdl-7557963
ABSTRACT
beta-Hexosaminidase gene mutations were analyzed in two adult-onset Sandhoff disease Italian patients by PCR analysis of a common known mutation (delta 5') and by heteroduplex analysis of genomic and RT-PCR DNA fragments, covering the whole gene. The patients' genotypes were delta 5'/C1214%, and G890A/C1214T, respectively. As mutation C1214T (Pro405Leu) is also present in the other two late-onset cases so far described, we suggest that C1214T is a common mutation in this type of Sandhoff disease. Mutation G890A (Cys297Tyr) is a novel mutation which presumably causes altered processing of the pro beta chain.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Sandhoff Disease
/
Beta-N-Acetylhexosaminidases
/
Mutation
Limits:
Adult
/
Humans
/
Male
Language:
En
Journal:
Hum Genet
Year:
1995
Document type:
Article
Affiliation country: