title: The Biotinidase Gene Variants Registry: A Paradigm Public Database.
abstract: The BTD gene codes for production of biotinidase, the enzyme responsible for helping the body reuse and recycle the biotin found in foods. Biotinidase deficiency is an autosomal recessively inherited disorder resulting in the inability to recycle the vitamin biotin and affects approximately 1 in 60,000 newborns. If untreated, the depletion of intracellular biotin leads to impaired activities of the biotin-dependent carboxylases and can result in cutaneous and neurological abnormalities in individuals with the disorder. Mutations in the biotinidase gene (BTD) alter enzymatic function. To date, more than 165 mutations in BTD have been reported. Our group has developed a database that characterizes the known mutations and sequence variants in BTD (http://arup.utah.edu/database/BTD/BTD_welcome.php). All sequence variants have been verified for their positions within the BTD gene and designated according to standard nomenclature suggested by Human Genome Variation Society (HGVS). In addition, we describe the change in the protein, indicate whether the variant is a known or likely mutation vs. a benign polymorphism, and include the reference that first described the alteration. We also indicate whether the alteration is known to be clinically pathological based on an observation of a known symptomatic individual or predicted to be pathological based on enzymatic activity or putative disruption of the protein structure. We incorporated the published phenotype to help establish genotype-phenotype correlations and facilitate this process for those performing mutation analysis and/or interpreting results. Other features of this database include disease information, relevant links about biotinidase deficiency, reference sequences, ability to query by various criteria, and the process for submitting novel variations. This database is free to the public and will be updated quarterly. This database is a paradigm for formulating databases for other inherited metabolic disorders.
authors.affiliation: ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108.
authors.forename: Melinda
authors.initials: M
authors.lastname: Procter
authors.affiliation: Departments of Medical Genetics and Pediatrics, Henry Ford Health System and the Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan 48202.
authors.forename: Barry
authors.initials: B
authors.lastname: Wolf
authors.affiliation: ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108.
authors.forename: David K
authors.initials: DK
authors.lastname: Crockett
authors.affiliation: ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108 rong.mao@aruplab.com.|Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah 84108.
authors.forename: Rong
authors.initials: R
authors.lastname: Mao
keywords: BTD gene; biotinidase; biotinidase deficiency; mutation database; polymorphism
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