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Novel mutations in the GALK1 gene in patients with galactokinase deficiency
Author(s) -
Hunter Michael,
Angelicheva Dora,
Levy Harvey L.,
Pueschel Sigfried M.,
Kalaydjieva Luba
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(2001)17:1<77::aid-humu20>3.0.co;2-h
Subject(s) - galactokinase , exon , biology , genetics , galactosemia , mutation , galactose , gene , biochemistry , escherichia coli
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. © 2001 Wiley‐Liss, Inc.