Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening
Tóm tắt
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.
Tài liệu tham khảo
Norrgard KJ, Pomponio RJ, Swango KL, et al (1998) Double mutation (A171T and D444H) is a common cause of profound biotinidase defficiency in children ascertained by newborn screening the United States. Hum Mutat 11: 410.
Swango KL, Demirkol M, Huner G, et al (1998) Partial biotinidase defficiency is usually due to the D444H mutation in the biotinidase gene. Hum Genet 102: 571-575.
Wolf B (2001) Disorders of biotin metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3935-3962.