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Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening
Author(s) -
Funghini S.,
Donati M.A.,
Pasquini E.,
Gasperini S.,
Ciani F.,
Morrone A.,
Zammarchi E.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1016522912849
Subject(s) - biotinidase deficiency , newborn screening , mutation , compound heterozygosity , mutation testing , amino acid substitution , medicine , genetics , human genetics , endocrinology , biology , pediatrics , gene
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.