{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T10:39:41Z","timestamp":1781779181298,"version":"3.54.5"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,3,23]],"date-time":"2011-03-23T00:00:00Z","timestamp":1300838400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2011,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a 31 year old woman who had prenatal carrier screening for Ashkenazi Jewish (AJ) genetic diseases and was found to have two acid \u00df\u2010glucosidase (GBA) mutations, c.1226A&gt;G(p.N370S) and c.1448T&gt;C(p.L444P), consistent with the diagnosis of Type 1 Gaucher disease (GD1). This genotype typically manifests in late\u2010adolescence with hepatosplenomegaly and early\u2010onset bone involvement. The Proband had a normal physical examination, no organomegaly, and normal blood counts, skeletal survey, and bone density. Leukocyte acid \u00df\u2010glucosidase and plasma chitotriosidase activities were normal. To investigate these unexpected results, her GBA alleles were RT\u2010PCR amplified and sequenced. Five RT\u2010PCR clones were negative for both mutations, while five clones had the c.1226A&gt;G(p.N370S) and c.1448T&gt;C(p.L444P) mutations, along with c.1483G&gt;C(p.A456P), and c.1497G&gt;C(p.V460V) mutations, the latter three lesions composing the rare GBA pseudogene\u2010derived RecNcil allele. Genetic testing misdiagnosed the asymptomatic Proband as affected with Type 1 Gaucher disease; however, molecular studies revealed a novel allele with the two common GBA mutations on the RecNcil background. This allele presumably arose by crossing\u2010over between a c.1226A&gt;G allele and the pseudogene, gene conversion, or a new c.1226A&gt;G mutation on the RecNcil background. This novel complex allele highlights a limitation of carrier screening for GD.<\/jats:p>","DOI":"10.1007\/s10545-011-9307-7","type":"journal-article","created":{"date-parts":[[2011,3,22]],"date-time":"2011-03-22T09:18:12Z","timestamp":1300785492000},"page":"789-793","source":"Crossref","is-referenced-by-count":10,"title":["Gaucher disease: when molecular testing and clinical presentation disagree \u2010the novel c.1226A&gt;G(p.N370S)\u2010\u2010RecNcil allele"],"prefix":"10.1002","volume":"34","author":[{"given":"Manisha","family":"Balwani","sequence":"first","affiliation":[{"name":"Department of Genetics and Genomic Sciences Mount Sinai School of Medicine of New York University Box 1498 Fifth Avenue at 100th Street New York NY 10029 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie E.","family":"Grace","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Mount Sinai School of Medicine of New York University Box 1498 Fifth Avenue at 100th Street New York NY 10029 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Desnick","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Mount Sinai School of Medicine of New York University Box 1498 Fifth Avenue at 100th Street New York NY 10029 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,3,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2005.tb02110.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinternmed.2010.302"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000039760"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.278.15.1268"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0378-1119(90)90264-R"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.1997.1.5"},{"key":"e_1_2_7_8_1","first-page":"3635","volume-title":"The Metabolic and Molecular Bases of Inherited Diseases","author":"Grabowski GA","year":"2001"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(82)90326-6"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI5168"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20524"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31815f247c"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90319-4"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20676"},{"key":"e_1_2_7_15_1","unstructured":"ICGG Gaucher Registry Data on File."},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21327"},{"key":"e_1_2_7_17_1","first-page":"1094","article-title":"Phenotype\/genotype correlations in Gaucher disease type I: clinical and therapeutic implications","volume":"52","author":"Sibille A","year":"1993","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9307-7","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-011-9307-7","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9307-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T20:40:23Z","timestamp":1694810423000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-011-9307-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,3,23]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,6]]}},"alternative-id":["10.1007\/s10545-011-9307-7"],"URL":"https:\/\/doi.org\/10.1007\/s10545-011-9307-7","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,3,23]]}}}