{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T13:06:10Z","timestamp":1792674370731,"version":"4.5.0"},"reference-count":42,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":730,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:sec>\n            <jats:title\/>\n            <jats:p>Cholesteryl ester storage disease (CESD) and Wolman disease are autosomal recessive later-onset and severe infantile disorders, respectively, which result from the deficient activity of lysosomal acid lipase (LAL). LAL is encoded by <jats:italic toggle=\"yes\">LIPA<\/jats:italic> (10q23.31) and the most common mutation associated with CESD is an exon 8 splice junction mutation (c.894G&gt;A; E8SJM), which expresses only \u02dc3%-5% of normally spliced LAL. However, the frequency of c.894G&gt;A is unknown in most populations. To estimate the prevalence of CESD in different populations, the frequencies of the c.894G&gt;A mutation were determined in 10,000 <jats:italic toggle=\"yes\">LIPA<\/jats:italic> alleles from healthy African-American, Asian, Caucasian, Hispanic, and Ashkenazi Jewish individuals from the greater New York metropolitan area and 6,578 <jats:italic toggle=\"yes\">LIPA<\/jats:italic> alleles from African-American, Caucasian, and Hispanic subjects enrolled in the Dallas Heart Study. The combined c.894G&gt;A allele frequencies from the two cohorts ranged from 0.0005 (Asian) to 0.0017 (Caucasian and Hispanic), which translated to carrier frequencies of 1 in 1,000 to \u02dc1 in 300, respectively. No African-American heterozygotes were detected. Additionally, by surveying the available literature, c.894G&gt;A was estimated to account for 60% (95% confidence interval [CI]: 51%-69%) of reported mutations among multiethnic CESD patients. Using this estimate, the predicted prevalence of CESD in the Caucasian and Hispanic populations is \u02dc0.8 per 100,000 (\u02dc1 in 130,000; 95% CI: \u02dc1 in 90,000 to 1 in 170,000). <jats:italic toggle=\"yes\">Conclusion<\/jats:italic>: These data indicate that CESD may be underdiagnosed in the general Caucasian and Hispanic populations, which is important since clinical trials of enzyme replacement therapy for LAL deficiency are currently being developed. Moreover, future studies on CESD prevalence in African and Asian populations may require full-gene <jats:italic toggle=\"yes\">LIPA<\/jats:italic> sequencing to determine heterozygote frequencies, since c.894G&gt;A is not common in these racial groups. (HEPATOLOGY 2013;53:958\u2013965)<\/jats:p>\n          <\/jats:sec>","DOI":"10.1002\/hep.26327","type":"journal-article","created":{"date-parts":[[2013,2,19]],"date-time":"2013-02-19T19:11:59Z","timestamp":1361301119000},"page":"958-965","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":96,"title":["Frequency of the Cholesteryl Ester Storage Disease Common Lipa E8sjm Mutation (C.894G&gt;A) in Various Racial And Ethnic Groups"],"prefix":"10.1097","volume":"58","author":[{"given":"Stuart 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