{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T17:18:02Z","timestamp":1790788682536,"version":"4.1.0"},"reference-count":47,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2013,7,3]],"date-time":"2013-07-03T00:00:00Z","timestamp":1372809600000},"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":[[2013,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>The Lamin B receptor (<jats:italic>LBR<\/jats:italic>) gene has been described to encode a bifunctional protein. Mutations in the <jats:italic>LBR<\/jats:italic> gene can affect neutrophil segmentation and sterol reductase activity and have been associated with two different recognized clinical conditions, Pelger\u2013Huet anomaly (PHA) and Greenberg skeletal dysplasia. PHA is a benign autosomal co\u2010dominant laminopathy resulting in bilobed neutrophil nuclei in heterozygotes, and unsegmented (ovoid) neutrophil nuclei in homozygotes. Some putative PHA homozygotes have been reported with minor skeletal malformations. Greenberg skeletal dysplasia is a severe autosomal recessive, perinatal lethal dwarfing disorder in which heterozygous carriers are usually without clinical manifestations. We here report a girl who has bilobed neutrophil nuclei and a mild skeletal dysplasia. Mutation analysis showed two novel mutations in the <jats:italic>LBR<\/jats:italic> gene: c.651_653 delinsTGATGAGAAA (p.Ile218Aspfs*19) and c.1757G\u2009&gt;\u2009A (p.Arg586His). These mutations were found to be in trans, and, thus, she is a compound heterozygote. Sterol analysis found trace amounts of cholesta\u20108,14\u2010dien\u20103beta\u2010ol, which is normally undetected in healthy individuals. This and previously reported cases suggest that mutations in <jats:italic>LBR<\/jats:italic> can result in a continuum of phenotypic manifestations. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36019","type":"journal-article","created":{"date-parts":[[2013,7,4]],"date-time":"2013-07-04T05:31:38Z","timestamp":1372915898000},"page":"2066-2073","source":"Crossref","is-referenced-by-count":31,"title":["Pelger\u2013huet anomaly and a mild skeletal phenotype secondary to mutations in <i>LBR<\/i>"],"prefix":"10.1002","volume":"161","author":[{"given":"Lior","family":"Borovik","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Wisconsin\u2010Madison Madison Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peggy","family":"Modaff","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Wisconsin\u2010Madison Madison Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans R.","family":"Waterham","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Disease Academic Medical Center University of Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony D.","family":"Krentz","sequence":"additional","affiliation":[{"name":"Prevention Genetics Marshfield Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard M.","family":"Pauli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Wisconsin\u2010Madison Madison Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"4181","DOI":"10.1016\/S0021-9258(19)39541-9","article-title":"In vivo phosphorylation of the lamin B receptor. 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