Abstract
We report 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining 11 mutations are missense mutations located throughout the gene and encode amino acids that are conserved in mammals. Our results increase the total number of different mutations that cause biotinidase deficiency to 79. These additional mutations will undoubtedly be helpful in identifying structure/function relationships once the three-dimensional structure of biotinidase is determined.
Original language | English (US) |
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Pages (from-to) | 108-111 |
Number of pages | 4 |
Journal | Molecular Genetics and Metabolism |
Volume | 77 |
Issue number | 1-2 |
DOIs | |
State | Published - 2002 |
Funding
The work was supported in part by the Safra Research Fund (B.W.) at Connecticut Children’s Medical Center and by a General Clinical Research Center Grant to the University of Connecticut Health Center (MO1RR06192) from the National Institutes of Health.
Keywords
- Biotinidase
- Biotinidase deficiency
- Mutation
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Biochemistry
- Molecular Biology
- Genetics
- Endocrinology