{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T14:16:31Z","timestamp":1790691391729,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,12,20]],"date-time":"2013-12-20T00:00:00Z","timestamp":1387497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology , Ministry of Science and Technology","doi-asserted-by":"publisher","award":["not applicable"],"award-info":[{"award-number":["not applicable"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:p>Farber lipogranulomatosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">ASAH1<\/jats:styled-content><\/jats:italic> gene. In the largest ever study, we identified and characterized <jats:italic><jats:styled-content style=\"fixed-case\">ASAH1<\/jats:styled-content><\/jats:italic> mutations from 11 independent Farber disease (FD) families. A total of 13 different mutations were identified including 1 splice, 1 polypyrimidine tract (<jats:styled-content style=\"fixed-case\">PPT<\/jats:styled-content>) deletion and 11 missense mutations. Eleven mutations were exclusive to the Indian population. The <jats:styled-content style=\"fixed-case\">IVS6<\/jats:styled-content>+<jats:styled-content style=\"fixed-case\">4A<\/jats:styled-content>&gt;G splice and <jats:styled-content style=\"fixed-case\">IVS5\u201016delTTTTC PPT<\/jats:styled-content> deletion mutations resulted in skipping of exon 6 precluding thereby the region responsible for cleavage of enzyme precursor. A missense mutation (p.<jats:styled-content style=\"fixed-case\">V198A<\/jats:styled-content>) resulted in skipping of exon 8 due to inactivation of an exonic splicing enhancer (<jats:styled-content style=\"fixed-case\">ESE<\/jats:styled-content>) element. This is the first report of mutations affecting <jats:styled-content style=\"fixed-case\">PPT<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">ESE<\/jats:styled-content> in the <jats:italic><jats:styled-content style=\"fixed-case\">ASAH1<\/jats:styled-content><\/jats:italic> gene resulting in FD.<\/jats:p>","DOI":"10.1111\/cge.12316","type":"journal-article","created":{"date-parts":[[2013,11,8]],"date-time":"2013-11-08T17:39:51Z","timestamp":1383932391000},"page":"530-538","source":"Crossref","is-referenced-by-count":23,"title":["Molecular analyses of novel <i><scp>ASAH1<\/scp><\/i> mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation"],"prefix":"10.1111","volume":"86","author":[{"given":"M.D.","family":"Bashyam","sequence":"first","affiliation":[{"name":"Laboratory of Molecular Oncology Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.K.","family":"Chaudhary","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Oncology Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Kiran","sequence":"additional","affiliation":[{"name":"Laboratory of Computational Biology Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Reddy","sequence":"additional","affiliation":[{"name":"Laboratory of Computational Biology Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.A.","family":"Nagarajaram","sequence":"additional","affiliation":[{"name":"Laboratory of Computational Biology Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Dalal","sequence":"additional","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Bashyam","sequence":"additional","affiliation":[{"name":"School of Life Sciences University of Hyderabad Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Suri","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Post Graduate Institute of Medical Education and Research Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Post Graduate Institute of Medical Education and Research Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Kabra","sequence":"additional","affiliation":[{"name":"Department of Pediatrics All India Institute of Medical Sciences New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.D.","family":"Puri","sequence":"additional","affiliation":[{"name":"Deparment of Genetic Medicine Sir Ganga Ram Hospital Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"RamaDevi","sequence":"additional","affiliation":[{"name":"Sandor Proteomics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Kapoor","sequence":"additional","affiliation":[{"name":"Division of Genetics Lok Nayak Hospital &amp; Maulana Azad Medical College New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Danda","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Christian Medical College and Hospital Vellore India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12,20]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"816","article-title":"Lipogranulomatosis; a new lipo\u2010glycoprotein storage disease","volume":"24","author":"Farber S","year":"1957","journal-title":"J Mt Sinai Hosp N Y"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)51879-2"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M709166200"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.51.33110"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-004-0169-9"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0019-z"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100965"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20796"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10707.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.24189"},{"key":"e_1_2_6_12_1","first-page":"320","article-title":"Novel biochemical abnormalities and genotype in Farber disease","volume":"49","author":"Muranjan M","year":"2012","journal-title":"Indian Pediatr"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.118638.110"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21642"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11010-011-1077-x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M103066200"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.5"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.04.019"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12316","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12316","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T01:19:44Z","timestamp":1696295984000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12316"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,20]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["10.1111\/cge.12316"],"URL":"https:\/\/doi.org\/10.1111\/cge.12316","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,20]]}}}