{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T05:07:42Z","timestamp":1698642462466},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,6,21]],"date-time":"2011-06-21T00:00:00Z","timestamp":1308614400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2011,8]]},"abstract":"<jats:p>Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Exome sequencing of two patients in a family with atypical X\u2010linked leukodystrophy.<\/jats:p><jats:p>We encountered a family with two boys similarly showing brain atrophy with reduced white matter, hypoplasia of the brain stem and corpus callosum, spastic paralysis, and severe growth and mental retardation without speaking a word. The phenotype of these patients was not compatible with any known type of syndromic leukodystrophy. Presuming an X\u2010linked disorder, we performed next\u2010generation sequencing (NGS) of the transcripts of the entire X chromosome. A single lane of exome NGS in each patient was sufficient. Six potential mutations were found in both affected boys. Two missense mutations, including c.92T&gt;C (p.V31A) in <jats:italic>L1CAM<\/jats:italic>, were potentially pathogenic, but this remained inconclusive. The other four could be excluded. Because the patients did not show adducted thumbs or hydrocephalus, the <jats:italic>L1CAM<\/jats:italic> change in this family can be interpreted as different scenarios. Personal genome analysis using NGS is certainly powerful, but interpretation of the data can be a substantial challenge requiring a lot of tasks.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01721.x","type":"journal-article","created":{"date-parts":[[2011,6,6]],"date-time":"2011-06-06T17:57:24Z","timestamp":1307383044000},"page":"161-166","source":"Crossref","is-referenced-by-count":7,"title":["Exome sequencing of two patients in a family with atypical X\u2010linked leukodystrophy"],"prefix":"10.1111","volume":"80","author":[{"given":"Y","family":"Tsurusaki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Doi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Saitsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Miyake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,6,21]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.150"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/461458a"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0110-13"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21400"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21300"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.646"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.078212.108"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2007.12.069"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410104"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1092-107"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10028"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.270"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1893"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2011.01721.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2011.01721.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T17:22:15Z","timestamp":1694452935000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2011.01721.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6,21]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,8]]}},"alternative-id":["10.1111\/j.1399-0004.2011.01721.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2011.01721.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,6,21]]}}}