{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:53:50Z","timestamp":1790679230148,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,1,8]],"date-time":"2016-01-08T00:00:00Z","timestamp":1452211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mucolipidosis IIIalpha\/beta (MLIIIalpha\/beta) is a rare lysosomal storage disorder characterized by childhood onset of flexion contractures of fingers, joint stiffness in the shoulders, hips, and knees, and mild short stature. Recessive mutations in the <jats:italic>GNPTAB<\/jats:italic> gene have been associated with MLIIIalpha\/beta. We present five children aged 9\u201316 years from a large kindred family whose serum activities of several lysosomal enzymes were significantly elevated. Whole exome sequencing followed by confirmation by Sanger sequencing identified a novel homozygous missense mutation (c.22\u2009A\u2009&gt;\u2009G; p.R8G) in the <jats:italic>GNPTAB<\/jats:italic> gene in all affected subjects. The five patients initially presented with flexion contractures of fingers followed by stiffnes of large joints. Only two affected boys also had a nephrotic\u2010range proteinuria. Renal biopsy showed focal segmental glomerulosclerosis and foamy appearance of glomerular visceral epithelial cells which were compatible with storage disease. No other known causes of proteinuria could be detected by both laboratory and biopsy findings. There was no known family history of hereditary kidney disease, and healthy siblings and parents had normal renal function and urinalysis. These findings suggest that the renal involvement probably due to MLIIIalpha\/beta, although it can still be present by coincidence in the two affected patients. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37543","type":"journal-article","created":{"date-parts":[[2016,1,10]],"date-time":"2016-01-10T14:57:47Z","timestamp":1452437867000},"page":"1187-1195","source":"Crossref","is-referenced-by-count":6,"title":["Renal involvement in patients with mucolipidosis IIIalpha\/beta: Causal relation or co\u2010occurrence?"],"prefix":"10.1002","volume":"170","author":[{"given":"Beyhan","family":"T\u00fcys\u00fcz","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics Cerrahpasa Medical School Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adife G\u00fclhan","family":"Ercan\u2010Sencicek","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Program on Neurogenetics 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