{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T07:35:51Z","timestamp":1762068951427,"version":"build-2065373602"},"reference-count":35,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,9,27]],"date-time":"2022-09-27T00:00:00Z","timestamp":1664236800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010090","name":"Women\u2019s and Children\u2019s Health Research Institute (WCHRI)","doi-asserted-by":"publisher","award":["RES0054178"],"award-info":[{"award-number":["RES0054178"]}],"id":[{"id":"10.13039\/100010090","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Mucopolysaccharidoses (MPS) type IVA is a lysosomal storage disease that mainly affects the skeletal system and is caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). The condition can mistakenly be diagnosed as a primary skeletal dysplasia such as spondylo-epiphyseal dysplasia, which shares many similar phenotypic features. Here, we utilised whole exome sequencing to make the diagnosis of MPS IVA in a resource poor country. We report for the first time the identification of a biallelic GALNS missense variant (c.697G&gt;A, p.Asp233Asn) in the Pakistani population and highlight the potential contribution that academic institutions can make in rare disease diagnosis in the absence of a developed clinical genetic service.<\/jats:p>","DOI":"10.3390\/genes13101743","type":"journal-article","created":{"date-parts":[[2022,9,27]],"date-time":"2022-09-27T23:12:12Z","timestamp":1664320332000},"page":"1743","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family"],"prefix":"10.3390","volume":"13","author":[{"given":"Saima","family":"Ghafoor","sequence":"first","affiliation":[{"name":"Translational Genomics Laboratory, COMSATS University Islamabad, Islamabad 45550, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9114-9481","authenticated-orcid":false,"given":"Karina da Costa","family":"Silveira","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raheel","family":"Qamar","sequence":"additional","affiliation":[{"name":"Pakistan Academy of Sciences, Islamabad 44000, Pakistan"},{"name":"Science and Technology Sector, ICESCO, Rabat 10104, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maleeha","family":"Azam","sequence":"additional","affiliation":[{"name":"Translational Genomics Laboratory, COMSATS University Islamabad, Islamabad 45550, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9479-4232","authenticated-orcid":false,"given":"Peter","family":"Kannu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2050313X2093824","DOI":"10.1177\/2050313X20938245","article-title":"A case study of three patients with mucopolysaccharidoses in Hue Central Hospital","volume":"8","author":"Hao","year":"2020","journal-title":"SAGE Open Med. 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