{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T13:42:41Z","timestamp":1784641361576,"version":"3.55.0"},"reference-count":28,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,5,26]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"j_jpem-2019-0426_s_999_w2aab3b7c20b1b6b1aab1c16b1Aa\"><jats:title>Background<\/jats:title><jats:p>Mucolipidosis II is a rare inherited metabolic disorder characterized by multiple pathologies including coarse facial features, thickened skin, dysostosis multiplex, and skeletal abnormalities. The disorder results due to variants in<jats:italic>GNPTAB<\/jats:italic>leading to reduced activity of the enzyme GlcNAc-1-phosphotransferase (GlcNAc-PT).<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2019-0426_s_998_w2aab3b7c20b1b6b1aab1c16b2Aa\"><jats:title>Methods<\/jats:title><jats:p>In the present study, a consanguineous Pakistani family was diagnosed with MLII based on clinical and biochemical examination. Peripheral blood samples were collected and subjected to DNA sequencing of all coding exons along with exon-intron boundaries of<jats:italic>GNPTAB<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2019-0426_s_997_w2aab3b7c20b1b6b1aab1c16b3Aa\"><jats:title>Results<\/jats:title><jats:p>Molecular investigation of the family identified two novel variants c.25C\u2009&gt;\u2009T: p.Gln9* (maternal allele) in exon 1 and c.1160C\u2009&gt;\u2009T: p.Ala387Val (paternal allele) in exon 10 segregating in compound heterozygous form in the affected individuals.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2019-0426_s_996_w2aab3b7c20b1b6b1aab1c16b4Aa\"><jats:title>Conclusions<\/jats:title><jats:p>The<jats:italic>GNPTAB<\/jats:italic>variant c.25C\u2009&gt;\u2009T variant is highly plausible to undergo nonsense-mediated mRNA decay, while the<jats:italic>GNPTAB<\/jats:italic>variant c.1160C\u2009&gt;\u2009T is located in a highly conserved domain, thus both the variants predict to lead to affect the enzyme activity. Two novel variants have been identified in<jats:italic>GNPTAB<\/jats:italic>as the underlying cause of ML-II in a Pakistani family. The study thus expands the available<jats:italic>GNPTAB<\/jats:italic>mutation spectrum.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2019-0426","type":"journal-article","created":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T21:46:14Z","timestamp":1585777574000},"page":"647-651","source":"Crossref","is-referenced-by-count":2,"title":["Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family"],"prefix":"10.1515","volume":"33","author":[{"given":"Muhammad Aman","family":"Khan","sequence":"first","affiliation":[{"name":"Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan"},{"name":"Department of Pathology and Laboratory Medicine, Lady Reading Hospital, Peshawar, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bibi","family":"Zubaida","sequence":"additional","affiliation":[{"name":"Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noreen","family":"Karim","sequence":"additional","affiliation":[{"name":"Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huma Arshad","family":"Cheema","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, The Children\u2019s Hospital and The Institute of Child Health, Lahore, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Naeem","sequence":"additional","affiliation":[{"name":"Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref71","doi-asserted-by":"crossref","first-page":"4275","DOI":"10.1016\/S0021-9258(19)69430-5","article-title":"UDP-N-acetylglucosamine: glycoprotein N-acetylglucosamine-1-phosphotransferase. 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