Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias

Couce, María L.; Pérez‐Cerdá, Celia; Silva, María Teresa García; Cazorla, Ángels García; Martín‐Hernández, Elena; Castiñeiras, Daisy; Pineda, Merçè; Navarrete, Rosa; Campistol, Jaume; Fraga, José M.; Pérez, Belén López; Ugarte, Magdalena

doi:10.1016/j.medcli.2011.01.018

Medicina Clínica

2011

DOI: 10.1016/j.medcli.2011.01.018

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Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias

María L. Couce¹,

Celia Pérez‐Cerdá

María Teresa García Silva

et al.

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Cited by 6 publications

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“…The database accepts new mutation submissions. To date, 165 variants of the BTD gene have been described (Hymes et al 2001; Baykal et al 2005; Couce et al 2011; Funghini et al 2002; Pomponio et al 1997; Norrgard et al 1999; Laszlo et al 2003; Milankovics et al 2007; Swango et al 1998; Iqbal et al 2010), of which 155 have been classified as pathogenic; one mutation is suspected of being pathogenic, and nine are suspected of being benign.…”

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confidence: 99%

The Biotinidase Gene Variants Registry: A Paradigm Public Database

Procter

Wolf

Crockett

et al. 2013

G3 Genes|Genomes|Genetics

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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.

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confidence: 99%

The Biotinidase Gene Variants Registry: A Paradigm Public Database

Procter

Wolf

Crockett

et al. 2013

G3 Genes|Genomes|Genetics

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Déficit de biotinidasa: las dos caras del cribado metabólico

Pintos-Morell

2011

Medicina Clínica

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Egea-Mellado¹,

Juan-Fita²,

González-Gallego³

et al. 2013

Medicina Clínica

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Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias

Cited by 6 publications

References 17 publications

The Biotinidase Gene Variants Registry: A Paradigm Public Database

The Biotinidase Gene Variants Registry: A Paradigm Public Database

Déficit de biotinidasa: las dos caras del cribado metabólico

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