Work

Novel mutations in theGALK1gene in patients with galactokinase deficiency

Year: 2000

Type: article

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.

Source: Human Mutation

DOI: 10.1002/1098-1004(2001)17:1<77::aid-humu20>3.0.co;2-h

Authors: Michael Hunter, Dora Angelicheva, Harvey L. Levy, Sigfried M. Pueschel, Luba Kalaydjieva

Institutions: Edith Cowan University, Harvard University, Brown University, Rhode Island Hospital, Harry Perkins Institute of Medical Research

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $2,740