A novel G6PD gene variant in a Chinese girl with favism.
China
G6PD deficiency
G6PD variant
acute hemolytic anemia
favism
Journal
Journal of clinical laboratory analysis
ISSN: 1098-2825
Titre abrégé: J Clin Lab Anal
Pays: United States
ID NLM: 8801384
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
received:
07
02
2020
revised:
21
04
2020
accepted:
28
04
2020
pubmed:
20
6
2020
medline:
15
7
2021
entrez:
20
6
2020
Statut:
ppublish
Résumé
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. The human G6PD gene is highly polymorphic, and over 200 mutations have been identified, many of which are associated with hemolytic anemia. Here, we analyzed the clinical genetics data of a Chinese girl with favism who developed acute hemolytic anemia after fava bean ingestion. The clinical genetics data of the proband who developed acute hemolytic anemia were collected and analyzed, and G6PD gene exons were sequenced in the proband and her family. We reported for the first time a novel G6PD gene variant in a Chinese girl, which we named "G6PD Wuhan." This variant is localized exon 3 of the G6PD gene at genomic position 141G > C, that is a change from p.Lys47 to Asn. The bioinformatics analysis and protein modeling study indicated this variant may have negative effects on the enzyme activity of G6PD. Our results indicated that favism in the proband was caused by this novel heterozygous variant (c.141G > C) in G6PD. The variant in G6PD has implications for genetic counseling and could provide insights into the functional roles of G6PD mutations.
Sections du résumé
BACKGROUND
BACKGROUND
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. The human G6PD gene is highly polymorphic, and over 200 mutations have been identified, many of which are associated with hemolytic anemia. Here, we analyzed the clinical genetics data of a Chinese girl with favism who developed acute hemolytic anemia after fava bean ingestion.
METHODS
METHODS
The clinical genetics data of the proband who developed acute hemolytic anemia were collected and analyzed, and G6PD gene exons were sequenced in the proband and her family.
RESULTS
RESULTS
We reported for the first time a novel G6PD gene variant in a Chinese girl, which we named "G6PD Wuhan." This variant is localized exon 3 of the G6PD gene at genomic position 141G > C, that is a change from p.Lys47 to Asn. The bioinformatics analysis and protein modeling study indicated this variant may have negative effects on the enzyme activity of G6PD.
CONCLUSIONS
CONCLUSIONS
Our results indicated that favism in the proband was caused by this novel heterozygous variant (c.141G > C) in G6PD. The variant in G6PD has implications for genetic counseling and could provide insights into the functional roles of G6PD mutations.
Identifiants
pubmed: 32557798
doi: 10.1002/jcla.23402
pmc: PMC7521235
doi:
Substances chimiques
G6PD protein, human
EC 1.1.1.49
Glucosephosphate Dehydrogenase
EC 1.1.1.49
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
e23402Subventions
Organisme : Scientific Research Foundation of Wuhan City, China
ID : WG18Q04
Informations de copyright
© 2020 The Authors. Journal of Clinical Laboratory Analysis Published by Wiley Periodicals LLC.
Références
Arch Biochem Biophys. 1996 Feb 1;326(1):145-51
pubmed: 8579362
N Engl J Med. 2018 Jan 4;378(1):60-71
pubmed: 29298156
Blood Cells Mol Dis. 2012 Mar 15;48(3):154-65
pubmed: 22293322
Blood Rev. 2007 Sep;21(5):267-83
pubmed: 17611006
J Clin Lab Anal. 2020 Sep;34(9):e23402
pubmed: 32557798
Blood Cells Mol Dis. 2004 Jul-Aug;33(1):25-30
pubmed: 15223006
Genomics. 1991 Jul;10(3):792-800
pubmed: 1889820
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Haematologica. 2006 Oct;91(10):1321-8
pubmed: 17018380
Lancet. 2008 Jan 5;371(9606):64-74
pubmed: 18177777
J Mol Diagn. 2010 May;12(3):305-11
pubmed: 20203002
Medicine (Baltimore). 2018 Jul;97(30):e11553
pubmed: 30045279
Blood Cells Mol Dis. 2008 Jul-Aug;41(1):17-21
pubmed: 18329300
Adv Parasitol. 2013;81:133-201
pubmed: 23384623
Int J Mol Sci. 2016 May 21;17(5):
pubmed: 27213370
Int J Biol Macromol. 2018 Nov;119:926-936
pubmed: 30096395