title: Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.
abstract: Mucolipidosis types II and III are autosomal recessive inherited diseases caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1 phosphotransferase (GlcNAc-phosphotransferase), which adds phosphate to function as a recognition marker for the uptake and transport of lysosomal enzymes. We investigated mutations in the GNPTA (MGC4170) gene, which codes for the alpha/beta subunits of phosphotransferase, and in the GNPTAG gene, which codes for its gamma subunits in five Korean patients with mucolipidosis type II or IIIA. We identified seven mutations in the GNPTA gene, but none in GNPTAG. The mutations in type II patients included p.Q104X (c.310C>T), p.R1189X (c.3565C>T), p.S1058X (c.3173C>G), p.W894X (c.2681G>A), and p.H1158fsX15 (c.3474_3475delTA), all of which are nonsense or frameshift mutations. However, a splicing site mutation, IVS13+1G>A (c.2715+1G>A) was detected along with a nonsense or a frameshift mutation (p.R1189X or p.E858fsX3 (c.2574_2575delGA)) in two mucolipidosis type IIIA patients. This report shows that mutations in the GNPTA gene coding for the alpha/beta subunits of phosphotransferase, and not mutations in the GNPTAG gene, account for most of the genetic mutations found in Korean patients with mucolipidosis type II or IIIA.
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gang-Nam Gu, Seoul, 135-710, Korea.
authors.forename: Kyung Hoon
authors.initials: KH
authors.lastname: Paik
authors.forename: Seng Mi
authors.initials: SM
authors.lastname: Song
authors.forename: Chang Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yu
authors.forename: Jung Sim
authors.initials: JS
authors.lastname: Kim
authors.forename: Ki Hoon
authors.initials: KH
authors.lastname: Min
authors.forename: Soo Hee
authors.initials: SH
authors.lastname: Chang
authors.forename: Eun Jae
authors.initials: EJ
authors.lastname: Yoo
authors.forename: In Jung
authors.initials: IJ
authors.lastname: Lee
authors.forename: Eun Kyung
authors.initials: EK
authors.lastname: Kwan
authors.forename: Sun Joo
authors.initials: SJ
authors.lastname: Han
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009081:Mucolipidoses / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D017855:Transferases (Other Substituted Phosphate Groups) / Q000235:genetics* / Q000378:metabolism
chemical_list: D017855:Transferases (Other Substituted Phosphate Groups); C505859:alpha-beta GlcNAc-1-phosphotransferase, human; C511050:GNPTAB protein, human; C504791:GNPTG protein, human