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Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
Hum Mutat. 2004 Apr; 23(4):396.HM

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.

Authors+Show Affiliations

Department of Biopathology, Human Genetics Unit, Tor Vergata University of Rome, Italy.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15024738

Citation

Sangiuolo, Federica, et al. "Biochemical Characterization of Two GALK1 Mutations in Patients With Galactokinase Deficiency." Human Mutation, vol. 23, no. 4, 2004, p. 396.
Sangiuolo F, Magnani M, Stambolian D, et al. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat. 2004;23(4):396.
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.
Sangiuolo F, et al. Biochemical Characterization of Two GALK1 Mutations in Patients With Galactokinase Deficiency. Hum Mutat. 2004;23(4):396. PubMed PMID: 15024738.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. AU - Sangiuolo,Federica, AU - Magnani,Mauro, AU - Stambolian,Dwight, AU - Novelli,Giuseppe, PY - 2004/3/17/pubmed PY - 2004/5/7/medline PY - 2004/3/17/entrez SP - 396 EP - 396 JF - Human mutation JO - Hum. Mutat. VL - 23 IS - 4 N2 - 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. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/15024738/Biochemical_characterization_of_two_GALK1_mutations_in_patients_with_galactokinase_deficiency_ L2 - https://doi.org/10.1002/humu.9223 DB - PRIME DP - Unbound Medicine ER -