title: Forty-eight novel mutations causing biotinidase deficiency.
abstract: Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin biotin and is characterized by neurological and cutaneous symptoms. The symptoms can be ameliorated or prevented by administering pharmacological doses of biotin. Since 2008, approximately 300 samples have been submitted to ARUP's Molecular Sequencing Laboratory for biotinidase mutation analysis. Of these, 48 novel alterations in the biotinidase gene have been identified. Correlating the individual's serum enzymatic activity with the genotype, we have been able to determine the effect of the novel alteration on enzyme activity and, thereby, determine its likelihood of being pathogenic in 44 of these individuals. The novel mutations and uncertain alterations have been added to the database established by ARUP (http://arup.utah.edu/database/BTD/BTD_welcome.phps) to help clinicians make decisions about management and to better counsel their patients based on their genotypes.
authors.affiliation: ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, UT, USA.
authors.forename: Melinda
authors.initials: M
authors.lastname: Procter
authors.affiliation: Department of Research Administration, Henry Ford Hospital and Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, USA. Electronic address: bwolf1@hfhs.org.
authors.forename: Barry
authors.initials: B
authors.lastname: Wolf
authors.affiliation: ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, UT, USA; Department of Pathology, University of Utah, Salt Lake City, UT, USA.
authors.forename: Rong
authors.initials: R
authors.lastname: Mao
mesh_terms: D001710:Biotin / Q000627:therapeutic use; D043523:Biotinidase / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D028921:Biotinidase Deficiency / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D030541:Databases, Genetic; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA
chemical_list: D001710:Biotin; D043523:Biotinidase
keywords: Biotin-responsive; Biotinidase; Biotinidase deficiency; Mutation; Mutation database