Open AccessA Frequent Mutation in the FTL Gene Causing Hyperferritinemia Cataract Syndrome in Turkish Population Is c.-160A>G
Author(s) -
Burhan Balta,
Murat Erdoğan,
Aslıhan Kiraz,
Serdal Korkmaz,
Alperen Ağadayı
Publication year - 2019
Publication title -
turkish journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.351
H-Index - 16
ISSN - 1300-7777
DOI - 10.4274/tjh.galenos.2018.2018.0194
Subject(s) - sanger sequencing , exon , medicine , genetics , mutation , turkish population , proband , population , ferritin , gene mutation , gene , pediatrics , biology , genotype , environmental health
Hyperferritinemia cataract syndrome (HFCS) is an autosomal dominantly inherited disease characterized by increased serum ferritin levels and bilateral cataract formation in the early period of life. Heterozygote mutations in the 5’ untranslated region of the L-ferritin gene ( FTL ) have been reported to cause this disease. In this study, our purpose was to research the FTL gene mutations that cause HFCS in Central Anatolia and the clinical effects of these mutations.