Novel mutations in 13 probands with galactokinase deficiency

V. Kolosha; E. Anoia; C. De Cespedes; R. Gitzelmann; L. Shih; T. Casco; M. Saborio; R. Trejos; N. Buist; T. Tedesco; W. Skach; O. Mitelmann; D. Ledee; K. Huang; D. Stambolian

doi:10.1002/(SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M

Novel mutations in 13 probands with galactokinase deficiency

V. Kolosha, E. Anoia, C. De Cespedes, R. Gitzelmann, L. Shih, T. Casco, M. Saborio, R. Trejos, N. Buist, T. Tedesco, W. Skach, O. Mitelmann, D. Ledee, K. Huang, D. Stambolian

Biochemistry & Molecular Biology

Research output: Contribution to journal › Article › peer-review

35 Scopus citations

Abstract

Galactokinase is an essential enzyme in the metabolism of galactose. Patients with deficiencies in galactokinase exhibit early-onset cataracts. We examined the sequence of the human galactokinase gene (GK1) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations. One of the mutations occurred in six of the 13 probands examined, and the remaining 11 were unique mutations. Expression of each of the mutant GK1 genes in Xenopus oocytes resulted in very low galactokinase activity levels. These results provide important information regarding the types of GK1 mutations that occur in the human population. (C) 2000 Wiley-Liss, Inc.

Original language	English (US)
Pages (from-to)	447-453
Number of pages	7
Journal	Human mutation
Volume	15
Issue number	5
DOIs	https://doi.org/10.1002/(SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M
State	Published - 2000

Keywords

Cataract
GK1
Galactokinase
Galactokinase deficiency
Galactosemia
Mutation analysis

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/(SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M

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Kolosha, V., Anoia, E., De Cespedes, C., Gitzelmann, R., Shih, L., Casco, T., Saborio, M., Trejos, R., Buist, N., Tedesco, T., Skach, W., Mitelmann, O., Ledee, D., Huang, K., & Stambolian, D. (2000). Novel mutations in 13 probands with galactokinase deficiency. Human mutation, 15(5), 447-453. https://doi.org/10.1002/(SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M

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title = "Novel mutations in 13 probands with galactokinase deficiency",

abstract = "Galactokinase is an essential enzyme in the metabolism of galactose. Patients with deficiencies in galactokinase exhibit early-onset cataracts. We examined the sequence of the human galactokinase gene (GK1) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations. One of the mutations occurred in six of the 13 probands examined, and the remaining 11 were unique mutations. Expression of each of the mutant GK1 genes in Xenopus oocytes resulted in very low galactokinase activity levels. These results provide important information regarding the types of GK1 mutations that occur in the human population. (C) 2000 Wiley-Liss, Inc.",

keywords = "Cataract, GK1, Galactokinase, Galactokinase deficiency, Galactosemia, Mutation analysis",

author = "V. Kolosha and E. Anoia and {De Cespedes}, C. and R. Gitzelmann and L. Shih and T. Casco and M. Saborio and R. Trejos and N. Buist and T. Tedesco and W. Skach and O. Mitelmann and D. Ledee and K. Huang and D. Stambolian",

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T1 - Novel mutations in 13 probands with galactokinase deficiency

AU - Kolosha, V.

AU - Anoia, E.

AU - De Cespedes, C.

AU - Gitzelmann, R.

AU - Shih, L.

AU - Casco, T.

AU - Saborio, M.

AU - Trejos, R.

AU - Buist, N.

AU - Tedesco, T.

AU - Skach, W.

AU - Mitelmann, O.

AU - Ledee, D.

AU - Huang, K.

AU - Stambolian, D.

PY - 2000

Y1 - 2000

N2 - Galactokinase is an essential enzyme in the metabolism of galactose. Patients with deficiencies in galactokinase exhibit early-onset cataracts. We examined the sequence of the human galactokinase gene (GK1) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations. One of the mutations occurred in six of the 13 probands examined, and the remaining 11 were unique mutations. Expression of each of the mutant GK1 genes in Xenopus oocytes resulted in very low galactokinase activity levels. These results provide important information regarding the types of GK1 mutations that occur in the human population. (C) 2000 Wiley-Liss, Inc.

AB - Galactokinase is an essential enzyme in the metabolism of galactose. Patients with deficiencies in galactokinase exhibit early-onset cataracts. We examined the sequence of the human galactokinase gene (GK1) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations. One of the mutations occurred in six of the 13 probands examined, and the remaining 11 were unique mutations. Expression of each of the mutant GK1 genes in Xenopus oocytes resulted in very low galactokinase activity levels. These results provide important information regarding the types of GK1 mutations that occur in the human population. (C) 2000 Wiley-Liss, Inc.

KW - Cataract

KW - GK1

KW - Galactokinase

KW - Galactokinase deficiency

KW - Galactosemia

KW - Mutation analysis

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AN - SCOPUS:0034087447

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JO - Human mutation

JF - Human mutation

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ER -

Novel mutations in 13 probands with galactokinase deficiency

Abstract

Keywords

ASJC Scopus subject areas

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