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Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc‐phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA
Author(s) -
Paik Kyung Hoon,
Song Seng Mi,
Ki Chang Seok,
Yu HanWook,
Kim Jung Sim,
Min Ki Hoon,
Chang Soo Hee,
Yoo Eun Jae,
Lee In Jung,
Kwan Eun Kyung,
Han Sun Joo,
Jin DongKyu
Publication year - 2005
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20205
Subject(s) - frameshift mutation , mucolipidosis , nonsense mutation , biology , phosphotransferase , microbiology and biotechnology , mutation , gene , genetics , gene mutation , biochemistry , enzyme , missense mutation
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 α/β subunits of phosphotransferase, and in the GNPTAG gene, which codes for its γ 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 α/β 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. Hum Mutat 26(4), 308–314, 2005. © 2005 Wiley‐Liss, Inc.