title: Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations.
abstract: The aim of this study was to elucidate the pathologic sequence changes and associated clinical phenotypes in 9 new patients showing homozygosity for perforin gene among a total of 37 (24%) Turkish FHL families studied by linkage analysis. These 9 unrelated patients (5M/4F) were coming from consanguineous families and their presentation ages of systemic symptoms were ranged from birth to 15 years. Direct sequencing of coding exons of the perforin gene led to the identification of five different homozygous alterations. The nonsense W374X mutation was identified in three patients while four different missense mutations namely G149S, V50M, A91V and novel A523D were detected in the rest six patients.
authors.affiliation: Hacettepe University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, 06100-Sihhiye, Ankara, Turkey.
authors.forename: Hamza
authors.initials: H
authors.lastname: Okur
authors.forename: Gunay
authors.initials: G
authors.lastname: Balta
authors.forename: Nurten
authors.initials: N
authors.lastname: Akarsu
authors.forename: Ahmet
authors.initials: A
authors.lastname: Oner
authors.forename: Turkan
authors.initials: T
authors.lastname: Patiroglu
authors.forename: Ali
authors.initials: A
authors.lastname: Bay
authors.forename: Tulin
authors.initials: T
authors.lastname: Sayli
authors.forename: Sule
authors.initials: S
authors.lastname: Unal
authors.forename: Aytemiz
authors.initials: A
authors.lastname: Gurgey
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051359:Lymphohistiocytosis, Hemophagocytic / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D054353:Perforin / Q000235:genetics*; D014421:Turkey / Q000453:epidemiology
chemical_list: D018389:Codon, Nonsense; D054353:Perforin