Novel mutations in the GALK1 gene in patients with galactokinase deficiency

M Hunter, D Angelicheva, H L Levy, S M Pueschel, L Kalaydjieva

Research output: Contribution to journalArticle

16 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)77-8
Number of pages2
JournalHuman Mutation
Volume17
Issue number1
DOIs
Publication statusPublished - 2001
Externally publishedYes

Fingerprint

Galactosemias
Exons
Mutation
Genes
Galactokinase
Inborn Errors Metabolism
Reading Frames
Nonsense Codon
Nucleic Acid Databases
Amino Acid Substitution
Galactose
Base Pairing
Cataract

Cite this

Hunter, M ; Angelicheva, D ; Levy, H L ; Pueschel, S M ; Kalaydjieva, L. / Novel mutations in the GALK1 gene in patients with galactokinase deficiency. In: Human Mutation. 2001 ; Vol. 17, No. 1. pp. 77-8.
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Novel mutations in the GALK1 gene in patients with galactokinase deficiency. / Hunter, M; Angelicheva, D; Levy, H L; Pueschel, S M; Kalaydjieva, L.

In: Human Mutation, Vol. 17, No. 1, 2001, p. 77-8.

Research output: Contribution to journalArticle

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AU - Hunter, M

AU - Angelicheva, D

AU - Levy, H L

AU - Pueschel, S M

AU - Kalaydjieva, L

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