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NMIHBA was recently reported to be caused by <jats:italic>PRUNE1<\/jats:italic> mutations. Eight mutations have been reported in 13 unrelated families. Here, we report 3 <jats:italic>PRUNE1<\/jats:italic> mutations in 1 Caucasian and 3 Japanese families. One recurrent missense mutation (p.Asp106Asn) was previously reported in Turkish and Italian families, while the other 2 mutations (p.Leu18Serfs*8 and p.Cys180*) are novel. We also show that mutant <jats:italic>PRUNE1<\/jats:italic> mRNA can be subject to nonsense\u2010mediated mRNA decay. The patients presented in this study showed atypical NMIHBA phenotypes with no progressive microcephaly. Furthermore, one Caucasian case had significant macrocephaly; therefore, patients with <jats:italic>PRUNE1<\/jats:italic> mutations can exhibit a broad and heterogeneous spectrum of phenotypes.<\/jats:p>","DOI":"10.1111\/cge.13385","type":"journal-article","created":{"date-parts":[[2018,5,24]],"date-time":"2018-05-24T09:25:00Z","timestamp":1527153900000},"page":"362-367","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["<i>PRUNE1<\/i>\u2010related disorder: Expanding the clinical spectrum"],"prefix":"10.1111","volume":"94","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2466-240X","authenticated-orcid":false,"given":"E.","family":"Imagawa","sequence":"first","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama 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