Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency.
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| Abstract |
Erythrocyte bisphosphoglycerate mutase (BPGM) deficiency is a rare disease associated with a decrease in 2,3-diphosphoglycerate concentration. A complete BPGM deficiency was described in 1978 by Rosa et al (J Clin Invest 62:907, 1978) and was shown to be associated with 30% to 50% of an inactive enzyme detectable by specific antibodies and resulting from an 89 Arg-->Cys substitution. The propositus' three sisters exhibited the same phenotype, while his two children had an intermediate phenotype. Samples from the family were examined using polymerase chain reaction and allele-specific oligonucleotide hybridization and sequencing techniques. Amplification of erythrocyte total RNA from the propositus' sister around the 89 mutation indicated the presence of two forms of messenger RNAs, a major form with the 89 Arg-->Cys mutation and a minor form with a normal sequence. Sequence studies of the propositus' DNA samples indicated heterozygosity at locus 89 and another heterozygosity with the deletion of nucleotide C 205 or C 206. Therefore, the total BPGM deficiency results from a genetic compound with one allele coding for an inactive enzyme (mutation BPGM Créteil I) and the other bearing a frameshift mutation (mutation BPGM Créteil II). Examination of the propositus' two children indicated that they both inherited the BPGM Créteil I mutation.
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| Authors | V Lemarchandel, V Joulin, C Valentin, R Rosa, F Galactéros, J Rosa, M Cohen-Solal |
| Journal | Blood (Blood) Vol. 80 Issue 10 Pg. 2643-9 (Nov 15 1992) ISSN: 0006-4971 [Print] United States |
| PMID | 1421379 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't) |
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