Seventeen novel mutations that cause profound biotinidase deficiency.

Wolf B., Jensen K., Huner G. F., Demirkol M., Baykal T., Divry P., ...More

Molecular genetics and metabolism, vol.77, pp.108-11, 2002 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 77
  • Publication Date: 2002
  • Doi Number: 10.1016/s1096-7192(02)00149-x
  • Journal Name: Molecular genetics and metabolism
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.108-11
  • Keywords: biotinidase deficiency, biotinidase, mutation, IDENTIFICATION, GENE
  • Istanbul University Affiliated: No


We report 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining I I 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. (C) 2002 Elsevier Science (USA). All rights reserved.