{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T18:16:09Z","timestamp":1759342569937},"reference-count":38,"publisher":"Walter de Gruyter GmbH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"Abstract<\/jats:title>Background:<\/jats:title>Mucopolysaccharidosis IIIB (MPS IIIB) is a genetic disease characterized by mutations in the<\/jats:p><\/jats:sec>Case presentation:<\/jats:title>Whole exome sequencing (WES) was conducted and the putative pathogenic variants were validated by Sanger sequencing. The activity of MPS IIIB related enzyme in the patient\u2019s blood serum was assayed. A heterozygous, non-synonymous mutation (c.1562C>T, p.P521L) as well as a novel mutation (c.1705C>A, p.Q569K) were found in the<\/jats:p><\/jats:sec>Conclusions:<\/jats:title>Our results describe an atypical form of MPS IIIB and illustrate the diagnostic potential of targeted WES in Mendelian disease with unknown etiology. WES could become a powerful tool for molecular diagnosis of MPS IIIB in clinical setting.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2016-0333","type":"journal-article","created":{"date-parts":[[2017,3,18]],"date-time":"2017-03-18T23:27:32Z","timestamp":1489879652000},"source":"Crossref","is-referenced-by-count":14,"title":["Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis 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