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.
authors.affiliation: Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
authors.forename: V
authors.initials: V
authors.lastname: Kolosha
authors.forename: E
authors.initials: E
authors.lastname: Anoia
authors.forename: C
authors.initials: C
authors.lastname: de Cespedes
authors.forename: R
authors.initials: R
authors.lastname: Gitzelmann
authors.forename: L
authors.initials: L
authors.lastname: Shih
authors.forename: T
authors.initials: T
authors.lastname: Casco
authors.forename: M
authors.initials: M
authors.lastname: Saborio
authors.forename: R
authors.initials: R
authors.lastname: Trejos
authors.forename: N
authors.initials: N
authors.lastname: Buist
authors.forename: T
authors.initials: T
authors.lastname: Tedesco
authors.forename: W
authors.initials: W
authors.lastname: Skach
authors.forename: O
authors.initials: O
authors.lastname: Mitelmann
authors.forename: D
authors.initials: D
authors.lastname: Ledee
authors.forename: K
authors.initials: K
authors.lastname: Huang
authors.forename: D
authors.initials: D
authors.lastname: Stambolian
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D003001:Cloning, Molecular; D004251:DNA Transposable Elements; D005091:Exons; D005260:Female; D005686:Galactokinase / Q000172:deficiency* / Q000235:genetics*; D005693:Galactosemias / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011994:Recombinant Proteins / Q000096:biosynthesis; D017384:Sequence Deletion
chemical_list: D004251:DNA Transposable Elements; D011994:Recombinant Proteins; D005686:Galactokinase