Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
DC Field | Value | Language |
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dc.contributor.author | Yang, Mina | - |
dc.contributor.author | Cho, Sung Yun | - |
dc.contributor.author | Park, Hyung-Doo | - |
dc.contributor.author | Choi, Rihwa | - |
dc.contributor.author | Kim, Young Eun | - |
dc.contributor.author | Kim, Jinsup | - |
dc.contributor.author | Lee, Soo-Youn | - |
dc.contributor.author | Ki, Chang-Seok | - |
dc.contributor.author | Kim, Jong-Won | - |
dc.contributor.author | Sohn, Young Bae | - |
dc.contributor.author | Song, Junghan | - |
dc.contributor.author | Jin, Dong-Kyu | - |
dc.date.accessioned | 2022-07-14T20:04:27Z | - |
dc.date.available | 2022-07-14T20:04:27Z | - |
dc.date.created | 2021-05-14 | - |
dc.date.issued | 2017-01 | - |
dc.identifier.issn | 1750-1172 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/153012 | - |
dc.description.abstract | Background: Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic characteristics of the GNPTAB gene, which codes for the alpha/beta subunits of a phosphotransferase, in Korean ML II/III patients. We included prenatal tests and evaluated the spectrum of mutations in East Asian populations with ML II/III through a literature review. Methods: Seven patients from six families were enrolled in the study including two prenatal tests using chorionic villi samples. A diagnosis of ML II/III was made based on clinical findings and increases in serum lysosomal enzyme levels. PCR and direct sequencing were performed to identify GNPTAB mutations. Results: We found 14 mutant alleles including seven known mutations of c.2189delT (p.Leu730fs* 7), c.1090C ˃ T (p.Arg364*), c.2681G ˃ A (p.Trp894*), c.3565C ˃ T (p.Arg1189*), c.310C ˃ T (p.Gln104*), c.1071G ˃ A (p.Trp357*) and c.2574_2575delGA (p.Asn859Glnfs* 2). Four were novel variants of unknown significance: c.992A ˃ G (p.Tyr331Cys), c. 666 T ˃ A (p.Leu889*), c.637-6 T ˃ G (p.Thr213Phefs* 11), and c.471_472delTT (p.Tyr158Serfs* 8). Family studies revealed the probands to be compound heterozygotes. The fetuses carried the same GNPTAB mutations as the mucolipidosis II/III probands in the prenatal diagnosis. Conclusions: We identified GNPTAB mutations in all patients with ML II/III, but did not identify a hot spot in Korean patients. We successfully performed prenatal diagnosis using molecular investigation. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | BioMed Central | - |
dc.title | Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Kim, Young Eun | - |
dc.identifier.doi | 10.1186/s13023-016-0556-2 | - |
dc.identifier.scopusid | 2-s2.0-85011268656 | - |
dc.identifier.wosid | 000415584900001 | - |
dc.identifier.bibliographicCitation | Orphanet Journal of Rare Diseases, v.12, pp.1 - 10 | - |
dc.relation.isPartOf | Orphanet Journal of Rare Diseases | - |
dc.citation.title | Orphanet Journal of Rare Diseases | - |
dc.citation.volume | 12 | - |
dc.citation.startPage | 1 | - |
dc.citation.endPage | 10 | - |
dc.type.rims | ART | - |
dc.type.docType | 정기학술지(Article(Perspective Article포함)) | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalResearchArea | Research & Experimental Medicine | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Medicine, Research & Experimental | - |
dc.subject.keywordPlus | I-CELL DISEASE | - |
dc.subject.keywordPlus | PSEUDO-HURLER POLYDYSTROPHY | - |
dc.subject.keywordPlus | PHOSPHOTRANSFERASE ALPHA/BETA-SUBUNITS | - |
dc.subject.keywordPlus | III ALPHA/BETA | - |
dc.subject.keywordPlus | GNPTAB GENE | - |
dc.subject.keywordPlus | MUTATIONS | - |
dc.subject.keywordPlus | FIBROBLASTS | - |
dc.subject.keywordPlus | PHENOTYPE | - |
dc.subject.keywordPlus | GENOTYPE | - |
dc.subject.keywordAuthor | GNPTAB | - |
dc.subject.keywordAuthor | Lysosomal storage disease | - |
dc.subject.keywordAuthor | Mucolipidosis | - |
dc.subject.keywordAuthor | Prenatal diagnosis | - |
dc.identifier.url | https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0556-2 | - |
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