Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype.
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.
Engelen
J
J
Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.
Hamers
A
A
Schrander-Stumpel
C
C
Mulder
H
H
Poorthuis
B
B
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
D001227:Aspartylglucosylaminase