{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:26:13Z","timestamp":1790807173809,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,6,26]],"date-time":"2013-06-26T00:00:00Z","timestamp":1372204800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"name":"Department of Pathology"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2013,11]]},"abstract":"Abstract<\/jats:title>\n \n Biallelic mutations in\n \n LEPRE1<\/jats:italic>\n <\/jats:styled-content>\n result in recessively inherited forms of osteogenesis imperfecta (\n OI<\/jats:styled-content>\n ) that are often lethal in the perinatal period. A mutation (c.1080+1G>T, IVS5+1G>T) in\n A<\/jats:styled-content>\n frican\n A<\/jats:styled-content>\n mericans has a carrier frequency of about 1\/240. The mutant allele originated in\n W<\/jats:styled-content>\n est\n A<\/jats:styled-content>\n frica in tribes of\n G<\/jats:styled-content>\n hana and\n N<\/jats:styled-content>\n igeria where the carrier frequencies are 2% and 5%. By examining 200 samples from an\n A<\/jats:styled-content>\n frican\u2010derived population in\n T<\/jats:styled-content>\n obago and reviewing hospital neonatal death records, we determined that the carrier frequency of c.1080+1G>T was about one in 200 and did not contribute to the neonatal deaths recorded over a 3\u2010year period of time in\n T<\/jats:styled-content>\n rinidad. In the course of sequence analysis, we found surprisingly high\n \n LEPRE1<\/jats:italic>\n <\/jats:styled-content>\n allelic diversity in the\n T<\/jats:styled-content>\n obago\n DNA<\/jats:styled-content>\n samples in which there were 11 alleles distinguished by a single basepair variant in or near exon 5. All the alleles found in the\n T<\/jats:styled-content>\n obago population that were within the sequence analysis region were found in the\n A<\/jats:styled-content>\n frican\n A<\/jats:styled-content>\n merican population in the\n E<\/jats:styled-content>\n xome\n V<\/jats:styled-content>\n ariant\n P<\/jats:styled-content>\n roject. This diversity appeared to reflect the geographic origin of the original population in\n T<\/jats:styled-content>\n obago. In 44 individuals with biallelic\n \n LEPRE1<\/jats:italic>\n <\/jats:styled-content>\n mutations identified by clinical diagnostic testing, we found the sequence alterations occurred on seven of the 11 variant alleles. All but one of the mutations identified resulted in\n mRNA<\/jats:styled-content>\n or protein instability for the majority of the transcripts from the altered allele. These findings suggest that the milder end of the clinical spectrum could be due to as yet unidentified missense mutations in\n \n LEPRE1<\/jats:italic>\n <\/jats:styled-content>\n .\n <\/jats:p>","DOI":"10.1002\/mgg3.21","type":"journal-article","created":{"date-parts":[[2013,6,26]],"date-time":"2013-06-26T02:43:08Z","timestamp":1372214588000},"page":"194-205","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Allelic background of\n \n LEPRE1<\/i>\n <\/scp>\n mutations that cause recessive forms of osteogenesis imperfecta in different populations"],"prefix":"10.1002","volume":"1","author":[{"given":"Melanie G.","family":"Pepin","sequence":"first","affiliation":[{"name":"Department of Pathology University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schwarze","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virendra","family":"Singh","sequence":"additional","affiliation":[{"name":"Mt. Hope Hospital University of West Indies Medical School Trinidad and Tobago"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Romana","sequence":"additional","affiliation":[{"name":"Inserm\/Universit\u00e9 des Antilles et de la Guyane Centre Hospitalier Universitaire de Pointe\u2010\u00e0\u2010Pitre Guadeloupe"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Altheia","family":"Jones\u2010LeCointe","sequence":"additional","affiliation":[{"name":"Mt. Hope Hospital University of West Indies Medical School Trinidad and Tobago"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter H.","family":"Byers","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Washington Seattle Washington"},{"name":"Department of Medicine (Medical Genetics) University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,6,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20799"},{"key":"e_1_2_7_3_1","first-page":"42","article-title":"An audit of perinatal mortality","volume":"50","author":"Bassaw B.","year":"2001","journal-title":"West Indian Med. 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