{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T17:46:29Z","timestamp":1777311989037,"version":"3.51.4"},"reference-count":26,"publisher":"Walter de Gruyter GmbH","issue":"11","funder":[{"DOI":"10.13039\/501100004681","name":"Higher Education Commission","doi-asserted-by":"publisher","award":["6948\/NRPU\/HEC\/2017"],"award-info":[{"award-number":["6948\/NRPU\/HEC\/2017"]}],"id":[{"id":"10.13039\/501100004681","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,11,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2019-0188_s_999_w2aab3b7c11b1b6b1aab1c18b1Aa\">\n                  <jats:title id=\"d1057614e32640_w2aab3b7c11b1b6b1aab1c18b1aAa\">Background<\/jats:title>\n                  <jats:p>Mucopolysaccharidosis type 1 (MPS1) is a rare debilitating multisystem lysosomal disorder resulting due to the deficiency of \u03b1-L-iduronidase enzyme (IDUA), caused by recessive mutations in the <jats:italic>IDUA<\/jats:italic> gene. Lack or improper amount of the IDUA enzyme results in the improper metabolism of mucopolysaccharides or glycosaminoglycans (GAGs). These large sugar molecules accumulate in lysosomes within cells leading to different systemic complications. The estimated global incidence of MPS1 is 1:100,000 live births for the Hurler and 1:800,000 for the Scheie phenotypes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0188_s_998_w2aab3b7c11b1b6b1aab1c18b2Aa\">\n                  <jats:title id=\"d1057614e32651_w2aab3b7c11b1b6b1aab1c18b2aAa\">Methods<\/jats:title>\n                  <jats:p>Thirteen MPS1-affected children from 12 unrelated cohorts were enrolled. All coding and flanking regions of the <jats:italic>IDUA<\/jats:italic> gene were sequenced. Bioinformatics tools were used for data analysis and protein prediction for clinical correlations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0188_s_997_w2aab3b7c11b1b6b1aab1c18b3Aa\">\n                  <jats:title id=\"d1057614e32662_w2aab3b7c11b1b6b1aab1c18b3aAa\">Results<\/jats:title>\n                  <jats:p>Six <jats:italic>IDUA<\/jats:italic> gene mutations were mapped co-segregating with the recessive pattern of inheritance including a novel variant. A novel missense variant c.908T\u2009&gt;\u2009C (p.L303P) was mapped in two affected siblings in a cohort in the homozygous form. The variant c.1469T\u2009&gt;\u2009C (p.L490P) was mapped in five unrelated patients and c.784delC (p.H262Tfs*55) was mapped in three unrelated patients, while mutations c.1598C\u2009&gt;\u2009G (p.P533R), c.314G\u2009&gt;\u2009A (p.R105Q) and c.1277ins9 (p.[A394-L395-L396]) were mapped in a single patient each.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0188_s_996_w2aab3b7c11b1b6b1aab1c18b4Aa\">\n                  <jats:title id=\"d1057614e32673_w2aab3b7c11b1b6b1aab1c18b4aAa\">Conclusions<\/jats:title>\n                  <jats:p>Multisystem disorders and a wide range of clinical presentation impede the evaluation of patients as well as make it difficult to differentiate between different phenotypes of MPS. Early and accurate diagnosis is crucial for the disease management and implementation of an expanded new-born genetic screening program for inborn errors of metabolism including MPS1. We recommend c.784delC (p.H262Tfs*55) and c.1469T\u2009&gt;\u2009C (p.L490P) as first-line genetic markers for the molecular diagnosis of MPS1 in Pakistan.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2019-0188","type":"journal-article","created":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T09:54:31Z","timestamp":1567331671000},"page":"1221-1227","source":"Crossref","is-referenced-by-count":9,"title":["Mapping of <i>IDUA<\/i> gene variants in Pakistani patients with mucopolysaccharidosis type 1"],"prefix":"10.1515","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6055-4812","authenticated-orcid":false,"given":"Muhammad Yasir","family":"Zahoor","sequence":"first","affiliation":[{"name":"Molecular Biology and Forensic Laboratory, Institute of Biochemistry and Biotechnology , University of Veterinary and Animal Sciences , Lahore , Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huma Arshad","family":"Cheema","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology and Hepatology , The Children\u2019s Hospital and The Institute for Child Health , Lahore , Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sadaqat","family":"Ijaz","sequence":"additional","affiliation":[{"name":"Molecular Biology and Forensic Laboratory, Institute of Biochemistry and Biotechnology , University of Veterinary and Animal Sciences , Lahore , Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Nadeem","family":"Anjum","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology and Hepatology , The Children\u2019s Hospital and The Institute for Child Health , Lahore , Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khushnooda","family":"Ramzan","sequence":"additional","affiliation":[{"name":"Department of Genetics , King Faisal Specialist Hospital and Research Centre , Riyadh , Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4944-6295","authenticated-orcid":false,"given":"Munir Ahmad","family":"Bhinder","sequence":"additional","affiliation":[{"name":"Department of Human Genetics and Molecular Biology , University of Health Sciences , Lahore , Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2019,9,2]]},"reference":[{"key":"2023040101012445877_j_jpem-2019-0188_ref_001_w2aab3b7c11b1b6b1ab1b6b1Aa","doi-asserted-by":"crossref","unstructured":"Tebani A, Zanoutene-Cheriet L, Adjtoutah Z, Abily-Donval L, Brasse-Lagnel C, et al. 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