title: Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype.
abstract: Aspartylglucosaminuria (AGU) is a recessive autosomally inherited lysosomal storage disorder due to deficiency of the enzyme aspartylglucosaminidase (AGA). The structural gene for this human enzyme (AGA) has been assigned to the region 4q21----qter. We determined the AGA activity in cultured fibroblasts of a girl with a 46,XX,del(4)(q33) karyotype. The results indicate that the girl is a hemizygote for AGA, permitting the assignment of human AGA to the region 4q33----qter.
authors.affiliation: Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.
authors.forename: J
authors.initials: J
authors.lastname: Engelen
authors.forename: A
authors.initials: A
authors.lastname: Hamers
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: H
authors.initials: H
authors.lastname: Mulder
authors.forename: B
authors.initials: B
authors.lastname: Poorthuis
mesh_terms: D054880:Aspartylglucosaminuria; D001227:Aspartylglucosylaminase / Q000235:genetics* / Q000378:metabolism; D002478:Cells, Cultured; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D016464:Lysosomal Storage Diseases / Q000235:genetics*; D008297:Male
chemical_list: D001227:Aspartylglucosylaminase