{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T15:48:11Z","timestamp":1765381691412},"reference-count":61,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,5,14]],"date-time":"2010-05-14T00:00:00Z","timestamp":1273795200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Chediak\u2013Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by variable oculocutaneous albinism, immunodeficiency, mild bleeding diathesis, and an accelerated lymphoproliferative state. Abnormal lysosome\u2010related organelle membrane function leads to the accumulation of large intracellular vesicles in several cell types, including granulocytes, melanocytes, and platelets. This report describes a severe case of CHS resulting from paternal heterodisomy of chromosome 1, causing homozygosity for the most distal nonsense mutation (p.E3668X, exon 50) reported to date in the <jats:italic>LYST\/CHS1<\/jats:italic> gene. The mutation is located in the WD40 region of the CHS1 protein. The patient's fibroblasts expressed no detectable CHS1. Besides manifesting the classical CHS findings, the patient exhibited hypotonia and global developmental delays, raising concerns about other effects of heterodisomy. An interstitial 747\u2009kb duplication on 6q14.2\u20136q14.3 was identified in the propositus and paternal samples by comparative genomic hybridization. SNP genotyping revealed no additional whole chromosome or segmental isodisomic regions or other dosage variations near the crossover breakpoints on chromosome 1. Unmasking of a separate autosomal recessive cause of developmental delay, or an additive effect of the paternal heterodisomy, could underlie the severity of the phenotype in this patient. Published 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33389","type":"journal-article","created":{"date-parts":[[2010,5,14]],"date-time":"2010-05-14T22:17:08Z","timestamp":1273875428000},"page":"1474-1483","source":"Crossref","is-referenced-by-count":22,"title":["Chediak\u2013Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1"],"prefix":"10.1002","volume":"152A","author":[{"given":"Irini","family":"Manoli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gretchen","family":"Golas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy","family":"Westbroek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Vilboux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas C.","family":"Markello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy","family":"Introne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dawn","family":"Maynard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ben","family":"Pederson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekaterini","family":"Tsilou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael B.","family":"Jordan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. Suzanne","family":"Hart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James G.","family":"White","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjan","family":"Huizing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,5,14]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20198"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/bgl086"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000305963.37449.32"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/519999"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.032367"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.279"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/21.4.683"},{"key":"e_1_2_7_9_1","first-page":"979","article-title":"Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak\u2013Higashi syndrome","volume":"95","author":"Certain S","year":"2000","journal-title":"Blood"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.76.050106.093909"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.04.011"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32293"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200355"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2004.01660.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.23323"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/302050"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2006.10.022"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/301795"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.04.003"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/375179"},{"key":"e_1_2_7_21_1","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1055\/s-0037-1616221","article-title":"Hermansky\u2013Pudlak syndrome and Chediak\u2013Higashi syndrome: Disorders of vesicle formation and trafficking","volume":"86","author":"Huizing M","year":"2001","journal-title":"Thromb Haemost"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2927"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31863"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0b013e3282f2bcce"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.7.1087"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10184"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200981"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201649"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1086\/510919"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058016"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1206324"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6602083"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1006\/meth.2001.1262"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6584707"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1202099"},{"key":"e_1_2_7_36_1","first-page":"2347","article-title":"Activation of p73 silent allele in lung cancer","volume":"58","author":"Mai M","year":"1998","journal-title":"Cancer Res"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30250"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10000"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1158\/1541-7786.371.2.7"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-307"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2006.05.002"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.5402306"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0796-303"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1086\/515524"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.023861"},{"key":"e_1_2_7_46_1","first-page":"96","article-title":"Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease","volume":"13","author":"Riveiro\u2010Alvarez R","year":"2007","journal-title":"Mol Vis"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/biot.200600213"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2008.02.016"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2000.00052.x"},{"key":"e_1_2_7_50_1","doi-asserted-by":"publisher","DOI":"10.1086\/338455"},{"key":"e_1_2_7_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20583"},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31912"},{"key":"e_1_2_7_53_1","doi-asserted-by":"publisher","DOI":"10.3816\/CLM.2006.n.057"},{"key":"e_1_2_7_54_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0854.2003.00093.x"},{"key":"e_1_2_7_55_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-1257-4"},{"key":"e_1_2_7_56_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700899"},{"key":"e_1_2_7_57_1","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1182\/blood.V28.2.143.143","article-title":"The Chediak\u2013Higashi syndrome: A possible lysosomal disease","volume":"28","author":"White JG","year":"1966","journal-title":"Blood"},{"key":"e_1_2_7_58_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.1.214"},{"key":"e_1_2_7_59_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2003.tb05981.x"},{"key":"e_1_2_7_60_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31519"},{"key":"e_1_2_7_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.02.011"},{"key":"e_1_2_7_62_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31186"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33389","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33389","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T21:35:44Z","timestamp":1697060144000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33389"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,5,14]]},"references-count":61,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,6]]}},"alternative-id":["10.1002\/ajmg.a.33389"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33389","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,5,14]]}}}