{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T09:40:08Z","timestamp":1767174008424,"version":"build-2238731810"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,11,6]],"date-time":"2019-11-06T00:00:00Z","timestamp":1572998400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,11,6]],"date-time":"2019-11-06T00:00:00Z","timestamp":1572998400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Res Notes"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To describe the genetic variants in the\n                      <jats:italic>ARSA<\/jats:italic>\n                      gene in Sri Lankan patients with metachromatic leukodystrophy (MLD). As the variant profile of MLD in the Sri Lankan population is currently unknown.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Twenty patients from eighteen Sri Lankan families were screened for\n                      <jats:italic>ARSA<\/jats:italic>\n                      gene mutations. We found 13 different genetic variants of these three were novel. The three novel variants were p.Asp281Asn, p.Asp283Asn, p.Ala344Asp. Seven patients out of 20 were also positive for the pseudodeficiency (PD) allele c.1049A&gt;G (p.Asn350Ser). This is the first report to describe the molecular genetic variants of Sri Lankan patients with MLD.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13104-019-4773-3","type":"journal-article","created":{"date-parts":[[2019,11,6]],"date-time":"2019-11-06T10:03:40Z","timestamp":1573034620000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)"],"prefix":"10.1186","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1732-7339","authenticated-orcid":false,"given":"D.","family":"Hettiarachchi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V. H. W.","family":"Dissanayake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,11,6]]},"reference":[{"key":"4773_CR1","unstructured":"Von Figura K. Metachromatic leukodystrophy. Metabol mol basis of inherit dis. 2001."},{"key":"4773_CR2","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1016\/j.cca.2016.06.038","volume":"460","author":"Z Wang","year":"2016","unstructured":"Wang Z, et al. Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree. Clin Chim Acta. 2016;460:135\u20137.","journal-title":"Clin Chim Acta."},{"issue":"4","key":"4773_CR3","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1038\/s10038-019-0560-1","volume":"64","author":"DL Narayanan","year":"2019","unstructured":"Narayanan DL, et al. Spectrum of ARSA variations in Asian Indian patients with arylsulfatase A deficient metachromatic leukodystrophy. J Hum Genet. 2019;64(4):323\u201331.","journal-title":"J Hum Genet."},{"issue":"1\u20136","key":"4773_CR4","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1159\/000130931","volume":"22","author":"GAP Bruns","year":"1978","unstructured":"Bruns GAP, et al. Expression of human arylsulfatase-A in man-hamster somatic cell hybrids. Cytogenet Genome Res. 1978;22(1\u20136):182\u20135.","journal-title":"Cytogenet Genome Res."},{"issue":"1\u20132","key":"4773_CR5","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1016\/j.jns.2010.11.007","volume":"301","author":"P Shukla","year":"2011","unstructured":"Shukla P, et al. Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population. J Neurol Sci. 2011;301(1\u20132):38\u201345.","journal-title":"J Neurol Sci."},{"issue":"11","key":"4773_CR6","doi-asserted-by":"publisher","first-page":"E220","DOI":"10.1002\/humu.20851","volume":"29","author":"S Grossi","year":"2008","unstructured":"Grossi S, et al. Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. Hum Mutat. 2008;29(11):E220\u201330.","journal-title":"Hum Mutat."},{"issue":"23","key":"4773_CR7","doi-asserted-by":"publisher","first-page":"9436","DOI":"10.1073\/pnas.86.23.9436","volume":"86","author":"V Gieselmann","year":"1989","unstructured":"Gieselmann V, et al. Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site. Proc Natl Acad Sci. 1989;86(23):9436\u201340.","journal-title":"Proc Natl Acad Sci."},{"issue":"5","key":"4773_CR8","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1002\/humu.9190","volume":"22","author":"B Eng","year":"2003","unstructured":"Eng B, et al. Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). Hum Mutat. 2003;22(5):418\u20139.","journal-title":"Hum Mutat"},{"issue":"3","key":"4773_CR9","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1111\/j.1432-1033.1990.tb19167.x","volume":"191","author":"J Kreysing","year":"1990","unstructured":"Kreysing J, von Figura K, Gieselmann V. Structure of the arylsulfatase A gene. Eur J Biochem. 1990;191(3):627\u201331.","journal-title":"Eur J Biochem."},{"issue":"5","key":"4773_CR10","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richard","year":"2015","unstructured":"Richard S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet in Med. 2015;17(5):405.","journal-title":"Genet in Med."}],"updated-by":[{"DOI":"10.1186\/s13104-020-4908-6","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2020,1,22]],"date-time":"2020-01-22T00:00:00Z","timestamp":1579651200000}}],"container-title":["BMC Research Notes"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13104-019-4773-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13104-019-4773-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13104-019-4773-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T19:40:37Z","timestamp":1604518837000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcresnotes.biomedcentral.com\/articles\/10.1186\/s13104-019-4773-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,6]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["4773"],"URL":"https:\/\/doi.org\/10.1186\/s13104-019-4773-3","relation":{},"ISSN":["1756-0500"],"issn-type":[{"value":"1756-0500","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,6]]},"assertion":[{"value":"13 August 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 October 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 November 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 January 2020","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"After publication of the original article [1], the authors became aware of\u00a0a typographical error in the original Table\u00a01. Nucleotide substitution c.1425C>A\u00a0corresponding to amino acid change p.(Ala344Asp) should be corrected as c.1031C>A.","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Ethics approval for the study was obtained by the Faculty of Medicine, University of Colombo Ethics Review Committee and consent for genetic testing was obtained from the parents or guardians of the children.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The database is anonymized hence consent for publication was not required according to the Ethics Review Committee decision.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"726"}}