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
| Autor: | Ki Hoon Min, Kyung Hoon Paik, Eun Jae Yoo, In Jung Lee, Sun Joo Han, Dong-Kyu Jin, Han-Wook Yu, Chang-Seok Ki, Seng Mi Song, Eun Kyung Kwan, J. Kim, Soo Hee Chang |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
Male Adolescent DNA Mutational Analysis Transferases (Other Substituted Phosphate Groups) Biology medicine.disease_cause GNPTG Frameshift mutation Phosphotransferase Asian People Mucolipidoses Genetics medicine Humans Genetic Testing Child Gene Genetics (clinical) Mutation Mucolipidosis Infant Newborn Infant medicine.disease Molecular biology Child Preschool Mucolipidosis Type IIIA RNA splicing Female |
| Zdroj: | Human Mutation. 26:308-314 |
| ISSN: | 1098-1004 1059-7794 |
| DOI: | 10.1002/humu.20205 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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