{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T02:14:04Z","timestamp":1790475244376,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,9,17]],"date-time":"2013-09-17T00:00:00Z","timestamp":1379376000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,8]]},"abstract":"\n Peters plus syndrome (\n PPS<\/jats:styled-content>\n ) is a rare autosomal\u2010recessive disorder characterized by Peters anomaly of the eye, short stature, brachydactyly, dysmorphic facial features, developmental delay, and variable other systemic abnormalities. In this report, we describe screening of 64 patients affected with\n PPS<\/jats:styled-content>\n , isolated Peters anomaly and\n PPS<\/jats:styled-content>\n \u2010like phenotypes. Mutations in the coding region of\n \n B3GALTL<\/jats:styled-content>\n <\/jats:italic>\n were identified in nine patients; six had a documented phenotype of classic\n PPS<\/jats:styled-content>\n and the remaining three had a clinical diagnosis of\n PPS<\/jats:styled-content>\n with incomplete clinical documentation. A total of nine different pathogenic alleles were identified. Five alleles are novel including one frameshift, c.\n 168dupA<\/jats:styled-content>\n , p.(\n Gly57Argfs<\/jats:styled-content>\n *11), one nonsense, c.\n 1234C<\/jats:styled-content>\n >T, p.(Arg412*), two missense, c.\n 1045G<\/jats:styled-content>\n >A, p.(\n Asp349Asn<\/jats:styled-content>\n ) and c.\n 1181G<\/jats:styled-content>\n >A, p.(\n Gly394Glu<\/jats:styled-content>\n ), and one splicing, c.347+\n 5G<\/jats:styled-content>\n >T, mutations. Consistent with previous reports, the c.660+\n 1G<\/jats:styled-content>\n >A mutation was the most common mutation identified, seen in eight of the nine patients and accounting for 55% of pathogenic alleles in this study and 69% of all reported pathogenic alleles; while two patients were homozygous for this mutation, the majority had a second rare pathogenic allele. We also report the absence of\n \n B3GALTL<\/jats:styled-content>\n <\/jats:italic>\n mutations in 55 cases of\n PPS<\/jats:styled-content>\n \u2010like phenotypes or isolated Peters anomaly, further establishing the strong association of\n \n B3GALTL<\/jats:styled-content>\n <\/jats:italic>\n mutations with classic\n PPS<\/jats:styled-content>\n only.\n <\/jats:p>","DOI":"10.1111\/cge.12241","type":"journal-article","created":{"date-parts":[[2013,7,24]],"date-time":"2013-07-24T18:44:04Z","timestamp":1374691444000},"page":"142-148","source":"Crossref","is-referenced-by-count":45,"title":["Novel\n \n B3GALTL<\/scp>\n <\/i>\n mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes"],"prefix":"10.1111","volume":"86","author":[{"given":"E.","family":"Weh","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin, Children's Hospital of Wisconsin Milwaukee WI USA"},{"name":"Department of Cell Biology, Neurobiology and Anatomy Medical College of Wisconsin Milwaukee WI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.M.","family":"Reis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin, Children's Hospital of Wisconsin Milwaukee WI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.C.","family":"Tyler","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin, Children's Hospital of Wisconsin Milwaukee WI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Bick","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin, Children's Hospital of Wisconsin Milwaukee WI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.J.","family":"Rhead","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin, Children's Hospital of Wisconsin Milwaukee WI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Wallace","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seattle Children's Hospital Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.L.","family":"McGregor","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vanderbilt University School of Medicine, Monroe Carell Jr. Children's Hospital at Vanderbilt Nashville TN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.K.","family":"Dills","sequence":"additional","affiliation":[{"name":"Carolinas Medical Center Charlotte NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.\u2010C.","family":"Chao","sequence":"additional","affiliation":[{"name":"Department of Genome Medicine College of Medicine, Kaohsiung Medical University Kaohsiung Taiwan"},{"name":"Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics Kaohsiung Medical University Hospital Kaohsiung Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.C.","family":"Murray","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Iowa City IA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.V.","family":"Semina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin, Children's Hospital of Wisconsin Milwaukee WI USA"},{"name":"Department of Cell Biology, Neurobiology and Anatomy Medical College of Wisconsin Milwaukee WI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,9,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-3995(02)01120-6"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/507567"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/07853890802301975"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32498"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-008-0122-6"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32980"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01253.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2010.512355"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2011.587082"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.06.052"},{"key":"e_1_2_6_12_1","first-page":"2770","article-title":"Absence 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