A novel HEXB mutation and its structural effects in juvenile Sandhoff disease

Mutations in HEXB, encoding the β-subunit common to hexosaminidases A and B, cause the neurodegenerative condition, Sandhoff disease. A homozygous missense HEXB mutation (p. D459A) was discovered in six patients with a rare juvenile variant: we show that this disrupts a salt bridge between aspartate...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2008-12, Vol.95 (4), p.236-238
Main Authors: Wang, S.Z., Cachón-González, M.B., Stein, P.E., Lachmann, R.H., Corry, P.C., Wraith, J.E., Cox, T.M.
Format: Article
Language:English
Subjects:
Adolescent
beta-Hexosaminidase beta Chain - chemistry
beta-Hexosaminidase beta Chain - genetics
beta-Hexosaminidase beta Chain - metabolism
Child
Child, Preschool
European Continental Ancestry Group - genetics
Female
Genotype
GM2 gangliosidosis
HEXB
Humans
Juvenile Sandhoff disease
Male
Mutation
Mutation, Missense
Pedigree
Polymorphic
Sandhoff Disease - genetics
β-hexosaminidase
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Summary:Mutations in HEXB, encoding the β-subunit common to hexosaminidases A and B, cause the neurodegenerative condition, Sandhoff disease. A homozygous missense HEXB mutation (p. D459A) was discovered in six patients with a rare juvenile variant: we show that this disrupts a salt bridge between aspartate D459 and arginine 505 at the subunit interface; R505 mutations are reported in late-onset Sandhoff disease. Identification of D459A contributes to diagnosis and molecular understanding of attenuated Sandhoff disease variants.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2008.08.007