{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:43:34Z","timestamp":1760730214768},"reference-count":21,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Medicine"],"published-print":{"date-parts":[[2010]]},"abstract":"<jats:p>Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. We demonstrate novel heterogenous mutations of<jats:italic>CHS1<\/jats:italic>, the responsive gene of CHS, identified in five Japanese patients with CHS. Patients 1, 2, and 3 were siblings, and they had albinism of the skin and hair. They all had a heterogenous two-base deletion (c.5541-5542 del AA, p.Q1847fsX1850) in exon 18. Patient 4 had a heterogenous single-base insertion (c.3944-3945 ins C, p.T1315fsX1331) in exon 10. The patient exhibited severe early-onset phenotype and suffered from hemophagocytic lymphohistiocytosis. Patient 5 had two heterogenous nonsense mutations; c.7982C&gt;G, p.S2661X in exon 30 and c.8281A&gt;T, p.R2761X in exon 31. The patient suffered from infections in childhood and had visual disturbance and albinism of the skin and hair. The<jats:italic>CHS1<\/jats:italic>mutations described here have not been reported previously.<\/jats:p>","DOI":"10.1155\/2010\/464671","type":"journal-article","created":{"date-parts":[[2010,12,15]],"date-time":"2010-12-15T14:50:59Z","timestamp":1292424659000},"page":"1-5","source":"Crossref","is-referenced-by-count":10,"title":["Novel Heterogenous<i>CHS1<\/i>Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome"],"prefix":"10.1155","volume":"2010","author":[{"given":"Fuminori","family":"Tanabe","sequence":"first","affiliation":[{"name":"Department of Human Science, Interdisciplinary Graduate School of Medicine and Engineering, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirotake","family":"Kasai","sequence":"additional","affiliation":[{"name":"Department of Microbiology, Interdisciplinary Graduate School of Medicine and Engineering, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michiko","family":"Morimoto","sequence":"additional","affiliation":[{"name":"College of Nursing Art and Science, University of Hyogo, Akashi, Hyogo 673-8588, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeharu","family":"Oh","sequence":"additional","affiliation":[{"name":"Shizuoka Children\u2019s Hospital, Shizuoka 420-8660, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidetoshi","family":"Takada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Science, Fukuoka 812-8582, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiro","family":"Hara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Science, Fukuoka 812-8582, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiko","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Microbiology, Interdisciplinary Graduate School of Medicine and Engineering, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.2174\/1566524023362339"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2002.02038.x"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0b013e3282f2bcce"},{"issue":"2","key":"4","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/0006-291X(89)92451-0","volume":"160","year":"1989","journal-title":"Biochemical and Biophysical Research 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