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Published on: August 15, 2019
Seventeen novel mutations that cause profound biotinidase deficiency
1Division of Research, Department of Pediatrics, Connecticut Children's Medical Center, University of Connecticut School of Medicine, 282 Washington Street, Hartford, CT 06106, USA. bwolf@ccmckids.org
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.
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