A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 → Stop, CGA → TGA) associated with chronic haemolytic anaemia

Paola Bianchi, Manuela Zappa, Elena Bredi, Cristina Vercellati, Giovanni Pelissero, Fiorenza Barraco, Alberto Zanella

Research output: Contribution to journalArticle

Abstract

Two siblings of Italian origin with mild chronic haemolytic anaemia, psychomotor impairment and undetectable adenylate kinase (AK) activity are reported. The other red cell enzyme activities were normal except for a slight decrease of PFK. 2,3-DPG levels were increased in both siblings, and AMP decreased in one only. The parents were not consanguineous and displayed intermediate AK activity. The sequence of complete erythrocyte AK-1 cDNA showed the presence of a nonsense homozygous mutation at codon 107 (CGA → TGA, Arg → Stop) in the siblings. The mutation results in a truncated protein of 107 amino acids in comparison with the 194 of the normal one. Moreover a 37 bp deletion in the first part of exon 6 (from nt 326 to nt 362 of the cDNA sequence) was detected in one allele; this deletion is not likely to further affect the enzyme structure, being localized after the stop codon. The new variant was named AK Fidenza, from the origin of the patients.

Original languageEnglish
Pages (from-to)75-79
Number of pages5
JournalBritish Journal of Haematology
Volume105
Issue number1
DOIs
Publication statusPublished - 1999

Keywords

  • Adenylate kinase deficiency
  • AK-1 gene
  • Chronic haemolytic anaemia
  • Erythrocyte metabolism
  • Nonsense mutation

ASJC Scopus subject areas

  • Hematology

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