{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T08:53:59Z","timestamp":1788339239388,"version":"build-2803163510"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T00:00:00Z","timestamp":1630368000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The lamin\u2010B receptor (LBR) encodes a dual\u2010functioning inner nuclear membrane protein essential for cholesterol biosynthesis and chromatin organization. LBR pathogenic variants cause distinct phenotypes due to the dual function of LBR, including Pelger\u2013Hu\u00ebt anomaly (PHA), PHA with mild skeletal anomalies (PHASK; MIM# 618019), LBR\u2010related regressive type of spondylometaphyseal dysplasia (LBR\u2010R\u2010SMD), Greenberg dysplasia (MIM# 215140). We here report the first case with radiological manifestations of LBR\u2010R\u2010SMD in the fetal period, and milder skeletal findings in the similarly affected father. Direct sequencing of <jats:italic>LBR<\/jats:italic> revealed homozygous c.1534C&gt;T (p.Arg512Trp) in exon 12 in both affected individuals. Our report further refines the early phenotype in LBR\u2010R\u2010SMD, and demonstrates that the p.Arg512Trp mutation is associated with PHA. We propose that LBR\u2010R\u2010SMD should be considered as a differential diagnosis in pregnancies with sonographic evidence of short and bowed tubular bones with narrow thorax. Evaluating peripheral blood smears of expectant parents for the presence of PHA may lead to a clinical diagnosis, allowing for comprehensive prenatal genetic counseling.<\/jats:p>","DOI":"10.1002\/ajmg.a.62479","type":"journal-article","created":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T06:41:33Z","timestamp":1630478493000},"page":"253-258","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin\u2010<scp>B<\/scp> receptor (<scp>LBR<\/scp>)\u2010related regressive spondylometaphyseal dysplasia"],"prefix":"10.1002","volume":"188","author":[{"given":"Gozde Tutku","family":"Turgut","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Istanbul Medical Faculty Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c7a\u011fr\u0131","family":"G\u00fcle\u00e7","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Medical Faculty Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tugba","family":"Sarac Sivrikoz","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Division of Perinatology, Istanbul Medical Faculty Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamdi","family":"Kale","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Medical Faculty Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birsen","family":"Karaman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Medical Faculty Istanbul University  Istanbul Turkey"},{"name":"Department of Pediatric Basic Sciences Institute of Child Health, Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Center for Intractable Diseases Saitama Medical University Hospital  Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3172-5368","authenticated-orcid":false,"given":"Umut","family":"Altunoglu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Medical Faculty Istanbul University  Istanbul Turkey"},{"name":"Department of Medical Genetics Koc University School of Medicine (KUSOM)  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,8,31]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2003.04621.x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36019"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.4161\/nucl.1.4.12435"},{"issue":"8","key":"e_1_2_8_5_1","first-page":"748","article-title":"Homozygous form of the Pelger\u2010Hu\u00ebt anomaly","volume":"84","author":"Erice J. 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