Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

Federica Sangiuolo, Mauro Magnani, Dwight Stambolian, Giuseppe Novelli

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Galactokinase (GALK1) deficiency is an autosomal recessive disorder, which causes cataract formation in children not maintained on a lactose-free diet. Galactokinase deficiency results from mutation in the GALK1 gene mapped on 17q24. Since GK1 cDNA was cloned about 20 mutations (prevalently deletions and missense) have been reported to date. Most of these reported mutations are confined to single families, and only one of them, P28T, has been referred as the founder Romani mutation. In this paper we report two novel missense mutations in GALK1 gene, identified in two unrelated patients with galactokinase deficiency. One mutation, g.575G>A, substitutes a valine for a methionine at amino acid 32 (p.V32M), while the other mutation, g.2839G>A, results in the arginine to glutamine substitution p.R239Q (GenBank sequence L76927). Biochemical studies demonstrate that these mutations led to a drastic modification in GALK activity when individual mutant cDNAs were expressed in an E. coli system. These findings indicate the pathogeneticity of these mutations causing GALK deficiency.

Original languageEnglish
Pages (from-to)396
Number of pages1
JournalHuman Mutation
Volume23
Issue number4
Publication statusPublished - Apr 2004

Fingerprint

Galactosemias
Mutation
Missense Mutation
Complementary DNA
Roma
Sequence Deletion
Nucleic Acid Databases
Valine
Lactose
Glutamine
Methionine
Cataract
Genes
Arginine
Escherichia coli
Diet
Amino Acids

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Sangiuolo, F., Magnani, M., Stambolian, D., & Novelli, G. (2004). Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Human Mutation, 23(4), 396.

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. / Sangiuolo, Federica; Magnani, Mauro; Stambolian, Dwight; Novelli, Giuseppe.

In: Human Mutation, Vol. 23, No. 4, 04.2004, p. 396.

Research output: Contribution to journalArticle

Sangiuolo, F, Magnani, M, Stambolian, D & Novelli, G 2004, 'Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.', Human Mutation, vol. 23, no. 4, pp. 396.
Sangiuolo, Federica ; Magnani, Mauro ; Stambolian, Dwight ; Novelli, Giuseppe. / Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. In: Human Mutation. 2004 ; Vol. 23, No. 4. pp. 396.
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