IthaID: 2085



Names and Sequences

Functionality: Disease modifying mutation
Common Name: CD 175/176 (+7bp): (+CGGCGCC) HGVS Name: NG_013087.1:g.6493_6499dupCGGCGCC

Context nucleotide sequence:
ACCGGTGTACCCGGGGCCCGGCGCC [-/CGGCGCC] GGCTCCTCGGGTGGCTACTTCCCGC (Strand: -)

Also known as: c.519_525dup , p.Gly176Argfs*179

Comments: Protein change: G176Rfs. Compound heterozygote with p.R301H and p.A298P. Abnormally low levels of the red cell enzyme pyruvate kinase, a known cause of CNSHA. Severe, transfusion dependent hemolytic anemia. Persistent expression of fetal hemoglobin and expression of large quantities of embryonic globins in post-natal life. Associated with increased production of HbF and with borderline HbA2. Co-segregated with β-thalassaemia trait in a family from China, while co-inheritance with β0-thalassaemia resulted in a markedly reduced β-globin expression and thus Hb A levels in utero.

External Links

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 6500
Size: 7 bp
Located at: KLF1
Specific Location: Exon 2

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):Increased expression for ε
Increased expression for Aγ or Gγ
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]
Abnormal Hb [HP:0011902]

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Chinese, Vietnamese, Korean, Thai
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Gallienne AE, Dréau HM, Schuh A, Old JM, Henderson S, Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults., Haematologica , 97(3), 340-3, 2012 PubMed
  2. Wang Z, Luo G, Ji Y, A novel 519_525dup mutation of KLF1 gene identified in a Chinese blood donor with Lu(a-b-) phenotype., Transfusion , 53(7), 1619-20, 2013 PubMed
  3. Viprakasit V, Ekwattanakit S, Riolueang S, Chalaow N, Fisher C, Lower K, Kanno H, Tachavanich K, Bejrachandra S, Saipin J, Juntharaniyom M, Sanpakit K, Tanphaichitr VS, Songdej D, Babbs C, Gibbons RJ, Philipsen S, Higgs DR, Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression., Blood , 2014 PubMed
  4. Lou JW, Li DZ, Zhang Y, He Y, Sun MN, Ye WL, Liu YH, Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals., Blood Cells Mol. Dis. , 2014 PubMed
  5. Liu D, Zhang X, Yu L, Cai R, Ma X, Zheng C, Zhou Y, Liu Q, Wei X, Lin L, Yan T, Huang J, Mohandas N, An X, Xu X, Erythroid Krüppel-like factor mutations are relatively more common in a thalassemia endemic region and ameliorate the clinical and hematological severity of β-thalassemia., Blood , 2014 PubMed
  6. Huang LY, Li J, Zhang Y, Li DZ, A KLF1 gene mutation causes β-thalassemia minor in a Chinese family., Int J Lab Hematol , 40(2), e35-e37, 2018 PubMed
Created on 2013-06-28 13:12:27, Last reviewed on 2018-03-15 19:10:40 (Show full history)

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