Br J Haematol. 1999 Apr;105(1):75-9.

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.

Bianchi P, Zappa M, Bredi E, Vercellati C, Pelissero G, Barraco F, Zanella A.

Source

Divisione di Ematologia, IRCCS Ospedale Maggiore, Milano, Italy.

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.

PMID:: 10233365; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Supplemental Content

Save items

Related citations in PubMed

Severe erythrocyte adenylate kinase deficiency due to homozygous A-->G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia. [Br J Haematol. 1997]
Severe erythrocyte adenylate kinase deficiency due to homozygous A-->G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia.
Qualtieri A, Pedace V, Bisconte MG, Bria M, Gulino B, Andreoli V, Brancati C. Br J Haematol. 1997 Dec; 99(4):770-6.
A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia. [Blood Cells Mol Dis. 2004]
A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia.
Fermo E, Bianchi P, Vercellati C, Micheli S, Marcello AP, Portaleone D, Zanella A. Blood Cells Mol Dis. 2004 Sep-Oct; 33(2):146-9.
Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia. [Exp Hematol. 2007]
Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.
Abrusci P, Chiarelli LR, Galizzi A, Fermo E, Bianchi P, Zanella A, Valentini G. Exp Hematol. 2007 Aug; 35(8):1182-9.
Review Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies. [Br J Haematol. 2001]
Review Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.
Corrons JL, Alvarez R, Pujades A, Zarza R, Oliva E, Lasheras G, Callis M, Ribes A, Gelbart T, Beutler E. Br J Haematol. 2001 Feb; 112(2):475-82.
Review Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency. [Baillieres Best Pract Res Clin...]
Review Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency.
Fujii H, Miwa S. Baillieres Best Pract Res Clin Haematol. 2000 Mar; 13(1):141-8.

See reviews... See all...

Cited by 1 PubMed Central article

Adenylate kinase and AMP signaling networks: Metabolic monitoring, signal communication and body energy sensing. [Int J Mol Sci. 2009]
Adenylate kinase and AMP signaling networks: Metabolic monitoring, signal communication and body energy sensing.
Dzeja P, Terzic A. Int J Mol Sci. 2009 Apr 17; 10(4):1729-72. Epub 2009 Apr 17.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-...
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.
Br J Haematol. 1999 Apr ;105(1):75-9.

PubMed
Depression and schizophrenia in epilepsy: social and biological risk factors.
Depression and schizophrenia in epilepsy: social and biological risk factors.
Epilepsy Res. 1999 May ;35(1):59-68.

PubMed
Lessons for nutritional science from vitamin D.
Lessons for nutritional science from vitamin D.
Am J Clin Nutr. 1999 May ;69(5):825-6.

PubMed
Modulation of the lactose operon mRNA turnover by inhibitors of dihydrofolate re...
Modulation of the lactose operon mRNA turnover by inhibitors of dihydrofolate reductase.
Biochem Biophys Res Commun. 1978 Oct 16 ;84(3):769-76.

PubMed
Phase I evaluation of humanized OKT3: toxicity and immunomodulatory effects of h...
Phase I evaluation of humanized OKT3: toxicity and immunomodulatory effects of hOKT3gamma4.
Cancer Res. 1999 May 1 ;59(9):2096-101.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: