{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T08:56:25Z","timestamp":1780476985473,"version":"3.54.1"},"reference-count":41,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T00:00:00Z","timestamp":1598572800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic variants in the <jats:italic>RAB27A<\/jats:italic> gene and characterized by partial albinism, immunodeficiency, and occasional hematological and neurological involvement. We reviewed and analyzed the medical records of 12 individuals with GS2 from six families belonging to a highly consanguineous Qatari tribe and with a recurrent pathogenic variant in the RAB27A gene (NM_004580.4: c.244C\u2009&gt;\u2009T, p.Arg82Cys). Detailed demographic, clinical, and molecular data were collected. Cutaneous manifestations were the most common presentation (42%), followed by neurological abnormalities (33%) and immunodeficiency (25%). The most severe manifestation was HLH (33%). Among the 12 patients, three patients (25%) underwent HSCT, and four (33%) died. The cause of death in all four patients was deemed HLH, providing evidence for this complication's fatal nature. Interestingly, two affected patients (16%) were asymptomatic. This report highlights the broad spectrum of clinical presentations of GS2 associated with a founder variant in the <jats:italic>RAB27A<\/jats:italic> gene (c.244C\u2009&gt;\u2009T, p.Arg82Cys). Early suspicion of GS2 among Qatari patients with cutaneous manifestations, neurological findings, immunodeficiency, and HLH would shorten the diagnostic odyssey, guide early and appropriate treatment, and prevent fatal outcomes.<\/jats:p>","DOI":"10.1002\/ajmg.a.61829","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T16:29:38Z","timestamp":1598632178000},"page":"2570-2580","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["A founder <scp>RAB27A<\/scp> variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families"],"prefix":"10.1002","volume":"182","author":[{"given":"Reem","family":"Al\u2010Sulaiman","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Hamad Medical Corporation  Doha Qatar"},{"name":"Department of Adult Hematology\/Oncology Hamad Medical Corporation  Doha 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