Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I.

Détails

ID Serval
serval:BIB_2167632B972A
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I.
Périodique
Klinische Pädiatrie
Auteur⸱e⸱s
Vannier C., Behnisch W., Bartsch I., Sandrock K., Ertle F., Schmidt K., Busse A., Superti-Furga A., Kulozik A., Santoso S., Zieger B.
ISSN
1439-3824 (Electronic)
ISSN-L
0300-8630
Statut éditorial
Publié
Date de publication
2010
Volume
222
Numéro
3
Pages
150-153
Langue
anglais
Notes
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish
Résumé
Background: Glanzmann's thrombasthenia (GT), is a rare autosomalrecessive bleeding disorder. Platelets from patients with GT showquantitative or qualitative defects of the platelet membraneglycoprotein (GP) IIb/IIIa complex. A variety of genetic defects inITGA2B and ITGB3 (genes for GPIIb and GPIIIa) has been describedcausing the clinical entity of GT.Patients: A newborn with bleeding symptoms (petechiae) plateletanalyses revealed an inherited primary hemostasis disorder.Methods/Results: Analyses of patient's platelets using flow cytometryand immunoblotting showed absence of GPIIb protein and reduced amountof GPIIIa. Using restriction fragment length polymorphismheterozygosity for the deletion could be identified in the parents andin two siblings. Expression studies in mammalian cells revealed thatthe mutant GPIIb is missing and additionally affects the expression ofwildtype GPIIIa. This deletion leads to a truncation at the veryN-terminal region of the GPIIb protein.Conclusion: The present study describes a patient with GT associatedwith a novel homozygous deletion (c.175delG) in exon 1 of ITGA2B. Thisdeletion led to a reading frameshift and caused a severely truncatedform of GPIIb.
Mots-clé
Alleles, Chromosome Aberrations, Chromosome Deletion, Consanguinity, DNA Mutational Analysis, Exons/genetics, Frameshift Mutation, Genes, Recessive/genetics, Genotype, Heterozygote Detection, Homozygote, Humans, Infant, Infant, Newborn, Infant, Premature, Diseases/diagnosis, Infant, Premature, Diseases/genetics, Male, Pedigree, Platelet Aggregation/genetics, Platelet Glycoprotein GPIIb-IIIa Complex/genetics, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length/genetics, Thrombasthenia/diagnosis, Thrombasthenia/genetics
Pubmed
Web of science
Création de la notice
14/03/2011 16:08
Dernière modification de la notice
20/08/2019 12:58
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