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Novel mutations in 13 probands with galactokinase deficiency.
Hum Mutat. 2000; 15(5):447-53.HM

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.

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Authors+Show Affiliations

Kolosha V
Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Anoia E
No affiliation info available
de Cespedes C
No affiliation info available
Gitzelmann R
No affiliation info available
Shih L
No affiliation info available
Casco T
No affiliation info available
Saborio M
No affiliation info available
Trejos R
No affiliation info available
Buist N
No affiliation info available
Tedesco T
No affiliation info available
Skach W
No affiliation info available
Mitelmann O
No affiliation info available
Ledee D
No affiliation info available
Huang K
No affiliation info available
Stambolian D
No affiliation info available

MeSH

Base SequenceChild, PreschoolCloning, MolecularDNA Transposable ElementsExonsFemaleGalactokinaseGalactosemiasHumansInfantInfant, NewbornMaleMutationMutation, MissensePolymerase Chain ReactionRecombinant ProteinsSequence Deletion

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

10790206

Citation

Kolosha, V, et al. "Novel Mutations in 13 Probands With Galactokinase Deficiency." Human Mutation, vol. 15, no. 5, 2000, pp. 447-53.
Kolosha V, Anoia E, de Cespedes C, et al. Novel mutations in 13 probands with galactokinase deficiency. Hum Mutat. 2000;15(5):447-53.
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), 447-53.
Kolosha V, et al. Novel Mutations in 13 Probands With Galactokinase Deficiency. Hum Mutat. 2000;15(5):447-53. PubMed PMID: 10790206.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR 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 - 2000/5/2/pubmed PY - 2000/6/3/medline PY - 2000/5/2/entrez SP - 447 EP - 53 JF - Human mutation JO - Hum Mutat VL - 15 IS - 5 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. SN - 1059-7794 UR - https://www.unboundmedicine.com/medline/citation/10790206/Novel_mutations_in_13_probands_with_galactokinase_deficiency_ L2 - https://doi.org/10.1002/(SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M DB - PRIME DP - Unbound Medicine ER -