Mutation in a Highly Conserved COOH-Terminal Residue of Krüppel-Like Factor 1 Associated with Elevated Hb F in a Compound Heterozygous β-Thalassemia Patient with a Nontransfusion-Dependent Thalassemia Phenotype.
We present a patient with a compound heterozygosity codon 39 (C > T) (β0) [or β39(C5)Gln→Stop (G39X); CAG > TAG; HBB: c.118C > T] and -87 (C > T) (β+) (HBB: c.-137C > T) β-globin mutations, a non transfusion-dependent thalassemia phenotype and 97.0% fetal hemoglobin. A novel heterozygous mutation was identified in a highly conserved residue in the COOH-terminus of the Krüppel-like factor 1, R360H, that likely altered DNA-binding and impaired transactivation.
a Department of Pediatrics , Yale University School of Medicine , New Haven , CT , USA.|b Departments of Pathology and Genetics , University School of Medicine , New Haven , CT , USA.
Patrick G
PG
Gallagher
a Department of Pediatrics , Yale University School of Medicine , New Haven , CT , USA.
Yelena
Y
Maksimova
a Department of Pediatrics , Yale University School of Medicine , New Haven , CT , USA.
Vincent P
VP
Schulz
c Department of Internal Medicine , Yale School of Medicine , New Haven , CT , USA.
Bernard G
BG
Forget
D017124:Conserved Sequence; D005319:Fetal Hemoglobin / Q000032:analysis*; D006579:Heterozygote; D006801:Humans; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000235:genetics*
D051741:Kruppel-Like Transcription Factors; D055544:beta-Globins; C080774:erythroid Kruppel-like factor; D005319:Fetal Hemoglobin
Fetal hemoglobin; Krüppel-like factor 1; thalassemia; zinc finger