{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:52:51Z","timestamp":1760730771027},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,10,24]],"date-time":"2015-10-24T00:00:00Z","timestamp":1445644800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Chediak\u2013Higashi syndrome (<jats:styled-content style=\"fixed-case\">CHS<\/jats:styled-content>;<jats:styled-content style=\"fixed-case\"> OMIM<\/jats:styled-content> no. 214500) is an inherited multisystem disorder presenting with hypopigmentation and a propensity to infections due to immunological dysfunction. <jats:styled-content style=\"fixed-case\">CHS<\/jats:styled-content> generally presents in infancy with a fatal outcome, but less severe cases can present in adulthood. Treatment with bone marrow transplantation can be life\u2010saving, so establishing a correct diagnosis is critical. The presence of large granules on examination of peripheral blood smears is suggestive of the diagnosis of <jats:styled-content style=\"fixed-case\">CHS<\/jats:styled-content> in most centers. However, sequencing of the lysosomal trafficking, <jats:italic><jats:styled-content style=\"fixed-case\">LYST<\/jats:styled-content><\/jats:italic>, gene confirms the diagnosis and can provide a prognosis regarding disease severity. In the case presented here, we performed molecular testing to identify the causative mutation and tabulated published mutation data from 2009 to 2014. We found a novel frameshift mutation in our case and concluded that frameshift and nonsense are the most common types of mutation in <jats:styled-content style=\"fixed-case\">CHS<\/jats:styled-content>, but this may be biased due to underdiagnosis of the milder and atypical forms of the disease.<\/jats:p>","DOI":"10.1111\/ijd.13019","type":"journal-article","created":{"date-parts":[[2015,10,24]],"date-time":"2015-10-24T09:48:51Z","timestamp":1445680131000},"page":"317-321","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A clinical report of Chediak\u2013Higashi syndrome in infancy with a novel genotype from the Indian subcontinent"],"prefix":"10.1111","volume":"55","author":[{"given":"Ankur","family":"Singh","sequence":"first","affiliation":[{"name":"Department of Pediatrics Institute of Medical Sciences Banaras Hindu University Varanasi 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