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Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
Hum Mutat. 2001; 17(1):77-8.HM

Abstract

Galactokinase deficiency is an inborn error of galactose metabolism whose major clinical manifestation is the development of cataracts during the first months of life. Only 20 mutations have been reported to date and understanding of the functionally important domains of the galactokinase protein is still limited. Here we report four novel mutations in GALK1 that were identified in two unrelated patients with galactokinase deficiency. Three of these were amino acid substitutions: 1569C-->T in exon 2 (R68C); 7093C-->T in exon 6 (T288M) and 7538G-->C in exon 8 (A384P). In addition, a single base-pair deletion was found in exon 5 (2833delC), predicted to result in a shift of the reading frame and a premature termination codon at position 263. Some differences with the GALK1 sequence deposited in Genbank are also reported.

Authors+Show Affiliations

Centre for Human Genetics, Edith Cowan University, Perth, Western Australia.No affiliation info availableNo 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

11139256

Citation

Hunter, M, et al. "Novel Mutations in the GALK1 Gene in Patients With Galactokinase Deficiency." Human Mutation, vol. 17, no. 1, 2001, pp. 77-8.
Hunter M, Angelicheva D, Levy HL, et al. Novel mutations in the GALK1 gene in patients with galactokinase deficiency. Hum Mutat. 2001;17(1):77-8.
Hunter, M., Angelicheva, D., Levy, H. L., Pueschel, S. M., & Kalaydjieva, L. (2001). Novel mutations in the GALK1 gene in patients with galactokinase deficiency. Human Mutation, 17(1), 77-8.
Hunter M, et al. Novel Mutations in the GALK1 Gene in Patients With Galactokinase Deficiency. Hum Mutat. 2001;17(1):77-8. PubMed PMID: 11139256.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel mutations in the GALK1 gene in patients with galactokinase deficiency. AU - Hunter,M, AU - Angelicheva,D, AU - Levy,H L, AU - Pueschel,S M, AU - Kalaydjieva,L, PY - 2001/1/4/pubmed PY - 2001/3/3/medline PY - 2001/1/4/entrez SP - 77 EP - 8 JF - Human mutation JO - Hum Mutat VL - 17 IS - 1 N2 - Galactokinase deficiency is an inborn error of galactose metabolism whose major clinical manifestation is the development of cataracts during the first months of life. Only 20 mutations have been reported to date and understanding of the functionally important domains of the galactokinase protein is still limited. Here we report four novel mutations in GALK1 that were identified in two unrelated patients with galactokinase deficiency. Three of these were amino acid substitutions: 1569C-->T in exon 2 (R68C); 7093C-->T in exon 6 (T288M) and 7538G-->C in exon 8 (A384P). In addition, a single base-pair deletion was found in exon 5 (2833delC), predicted to result in a shift of the reading frame and a premature termination codon at position 263. Some differences with the GALK1 sequence deposited in Genbank are also reported. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/11139256/Novel_mutations_in_the_GALK1_gene_in_patients_with_galactokinase_deficiency_ L2 - https://doi.org/10.1002/1098-1004(2001)17:1<77::AID-HUMU20>3.0.CO;2-H DB - PRIME DP - Unbound Medicine ER -