{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T16:28:50Z","timestamp":1790267330695,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,9,30]],"date-time":"2019-09-30T00:00:00Z","timestamp":1569801600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Welfare Organization of Zanjan Province"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteosclerotic metaphyseal dysplasia (OSMD) is a very rare autosomal\u2010recessive disorder and a distinctive type of osteopetrosis, characterized mainly by skeletal fractures and deformity, osteosclerosis, and sometimes hypotonia, developmental delay, and seizures. Sequence variants in the leucine\u2010rich repeat kinase 1 (<jats:italic>LRRK1<\/jats:italic>) gene underlying OSMD have been reported previously. In the present study, we investigated a 14\u2010year\u2010old girl suspected with OSMD in a consanguineous family of Iranian origin segregating the disease in an autosomal\u2010recessive manner. The patient had severe short stature, multiple sclerotic lesions, sandwich vertebrae, Erlenmeyer flask deformity, and looser zones. The multifocal active bony pathology suggested multifocal bony inflammation or multiple looser fractures. Whole\u2010exome sequencing followed by Sanger sequencing confirmation revealed a novel homozygous stop gain mutation (c.G2785T, p.E929X) in the <jats:italic>LRRK1<\/jats:italic> gene. This is the first mutation in the <jats:italic>LRRK1<\/jats:italic> gene, underlying OSMD, in the Iranian population and the third case worldwide. The mutation is located in the C terminal of the Roc domain, distinct from domains affected in the previous two <jats:italic>LRRK1<\/jats:italic> mutations. Additionally, a new group of clinical indications different from the two previous cases is discussed.<\/jats:p>","DOI":"10.1111\/ahg.12352","type":"journal-article","created":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T06:45:56Z","timestamp":1569912356000},"page":"102-106","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["A novel homozygous <i>LRRK1<\/i> stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia"],"prefix":"10.1111","volume":"84","author":[{"given":"Mohammad","family":"Miryounesi","sequence":"first","affiliation":[{"name":"Genomic Research Center Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Nikfar","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Medicine, School of Medicine Zanjan University of Medical Sciences (ZUMS)  Zanjan 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