Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA)

Blood Cells, Molecules & Diseases
E BeutlerL Forman

Abstract

Five unrelated patients with hereditary glucosephosphate isomerase (GPI) deficiency resulting in nonspherocytic hemolytic anemia were studied. Three new mutations were found in the coding region of the GPI gene: two patients were heterozygous for 223 A-->G (R75G) and 898 G-->C(R300P), respectively and one was homozygous for 1415G-->A(R472H). Surprisingly, 2 previously reported mutations, 286 C-->T and 1039 C-->T, were found in 2 and 3 patients respectively. Until now only 4 of 18 GPI mutations had been found more than once in unrelated patients and these 4 in only 2 patients each. Eleven of the 20 known point mutations have occurred at CpG "hot spots" and the 286 C-->T and 1039 C-->T are among these. The 489 G/A polymorphism in the GPI coding region was used to demonstrate unequivocally that the 1039 C-->T mutation occurred in both haplotypes and therefore probably originated more than once. Because no common GPI mutation has been found we suggest that heterozygosity for GPI confers little if any selective advantage.

References

Feb 1, 1988·Human Genetics·D N Cooper, H Youssoufian
Mar 1, 1988·Medicine·A HironoE Beutler
Jun 1, 1974·Annals of Internal Medicine·E BeutlerC West
Apr 11, 1980·Nucleic Acids Research·A P Bird
Oct 1, 1993·Annals of Hematology·O ShalevE Beutler
May 1, 1993·Proceedings of the National Academy of Sciences of the United States of America·L Baronciani, E Beutler
Mar 1, 1993·Human Molecular Genetics·J I WalkerP Faik
Oct 27, 1997·American Journal of Human Genetics·E Beutler
Mar 28, 1998·Blood Cells, Molecules & Diseases·W Xu, E Beutler
Aug 1, 1997·Blood Cells, Molecules & Diseases·T BulliamyE Beutler

❮ Previous
Next ❯

Citations

Aug 8, 2006·Oncogene·H PelicanoP Huang
Jan 30, 2008·Stem Cells and Development·Anita BhattacharyyaClive N Svendsen
Jan 30, 2015·Protein Science : a Publication of the Protein Society·Heather R BrodkinMary Jo Ondrechen
Jun 14, 2005·Biochimica Et Biophysica Acta·Ada RepisoFernando Climent
Sep 11, 2007·Cancer Metastasis Reviews·Tatsuyoshi Funasaka, Avraham Raz
Aug 30, 2005·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Tatsuyoshi FunasakaAvraham Raz
Jun 12, 2019·Indian Journal of Pediatrics·Ravneet Kaur, Neerja Gupta
May 23, 2000·Journal of Neuroscience Research·N LeclercI R Nabi
Aug 5, 2000·Baillière's Best Practice & Research. Clinical Haematology·W Kugler, M Lakomek

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.