title: Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.
abstract: Mutation analysis performed on DNA from 6 Italian patients with partial biotinidase deficiency ascertained by newborn screening allowed the identification of two new mutations, c1211C > T (T404I) and a single base deletion c594delC. All patients were compound heterozygous for the D444H amino acid substitution showing that this mutation is also common in Italian patients affected by partial biotinidase deficiency.
authors.affiliation: Department of Pediatrics, University of Florence, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Funghini
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
authors.forename: E
authors.initials: E
authors.lastname: Pasquini
authors.forename: S
authors.initials: S
authors.lastname: Gasperini
authors.forename: F
authors.initials: F
authors.lastname: Ciani
authors.forename: A
authors.initials: A
authors.lastname: Morrone
authors.forename: E
authors.initials: E
authors.lastname: Zammarchi
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency*; D019943:Amino Acid Substitution / Q000235:genetics; D043523:Biotinidase; D004252:DNA Mutational Analysis; D006801:Humans; D007231:Infant, Newborn; D007558:Italy; D009154:Mutation / Q000235:genetics*; D015997:Neonatal Screening
chemical_list: D000581:Amidohydrolases; D043523:Biotinidase