{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:53:38Z","timestamp":1790679218938,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","license":[{"start":{"date-parts":[[2019,1,30]],"date-time":"2019-01-30T00:00:00Z","timestamp":1548806400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Philadelphia University in Jordan"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2019,1,30]]},"abstract":"<jats:p>Leukodystrophies (LDs) are heterogeneous genetic disorders characterized by abnormal white matter in the central nervous system. Some of the LDs are progressive and often fatal. In general, LD is primarily diagnosed based on the neuroimaging; however, definitive diagnosis of the LD type is done using genetic testing such as next-generation sequencing. The aim of this study is to identify the genetic causes of LD in two independent Jordanian cases that exhibit MRI findings confirming LD with no definitive diagnosis using whole exome sequencing (WES). The most likely causative variants were identified. In one case, the homozygous pathogenic variant NM_000049.2:c.914C&gt;A;p.Ala305Glu, which is previously reported in ClinVar, in the gene<jats:italic> ASPA<\/jats:italic> was identified causing Canavan disease. In the second case, the homozygous novel variant NM_000487.5:c.256C&gt;G;p.Arg86Gly in the gene<jats:italic> ARSA<\/jats:italic> was identified causing metachromatic leukodystrophy. The two variants segregate in their families. The phenotypes of the two studied cases overlap with assigned diseases. The present study raises the importance of using WES to identify the precise neurodevelopmental diseases in Jordan.<\/jats:p>","DOI":"10.1155\/2019\/7235914","type":"journal-article","created":{"date-parts":[[2019,1,30]],"date-time":"2019-01-30T18:35:41Z","timestamp":1548873341000},"page":"1-7","source":"Crossref","is-referenced-by-count":10,"title":["First Record Mutations in the Genes<i> ASPA<\/i> and<i> ARSA<\/i> Causing Leukodystrophy in Jordan"],"prefix":"10.1155","volume":"2019","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2862-0733","authenticated-orcid":true,"given":"Tawfiq","family":"Froukh","sequence":"first","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering, Philadelphia University, Jerash Road, Amman 11118, Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.01.006"},{"key":"2","volume-title":"Leukodystrophy Overview","year":"2014"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.12.434"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1588020"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu314"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbs017"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1754"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks596"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btm091"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000065893.60879.D3"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1111\/ped.12422"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1038\/ng1093-118"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1021\/bi9714924"},{"issue":"2","key":"19","doi-asserted-by":"crossref","first-page":"15C","DOI":"10.1042\/bj0930015C","volume":"93","year":"1964","journal-title":"Biochemical Journal"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1620\/tjem.243.297"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.10.006"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.07.019"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.1001\/jamapsychiatry.2016.3798"}],"container-title":["BioMed Research International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2019\/7235914.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2019\/7235914.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2019\/7235914.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,1,30]],"date-time":"2019-01-30T18:35:46Z","timestamp":1548873346000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/bmri\/2019\/7235914\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,30]]},"references-count":21,"alternative-id":["7235914","7235914"],"URL":"https:\/\/doi.org\/10.1155\/2019\/7235914","relation":{},"ISSN":["2314-6133","2314-6141"],"issn-type":[{"value":"2314-6133","type":"print"},{"value":"2314-6141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,30]]}}}