Homozygous deletion of GPIb beta and SEPT5 genes: a new contiguous gene syndrome?

Détails

ID Serval
serval:BIB_041AE8D64974
Type
Actes de conférence (partie): contribution originale à la littérature scientifique, publiée à l'occasion de conférences scientifiques, dans un ouvrage de compte-rendu (proceedings), ou dans l'édition spéciale d'un journal reconnu (conference proceedings).
Sous-type
Abstract (résumé de présentation): article court qui reprend les éléments essentiels présentés à l'occasion d'une conférence scientifique dans un poster ou lors d'une intervention orale.
Collection
Publications
Titre
Homozygous deletion of GPIb beta and SEPT5 genes: a new contiguous gene syndrome?
Titre de la conférence
43rd Workshop for Paediatric Research
Auteur(s)
Hainmann I, Bartsch I, Blaeser S., Lanza F., Nurden P., Busse A., Pavlova A., Oldenburg J., Superti-Furga A., Zieger B.
Adresse
Göttingen, Germany, March 1-2, 2007
ISBN
0340-6199
Statut éditorial
Publié
Date de publication
2007
Peer-reviewed
Oui
Volume
166
Série
European Journal of Pediatrics
Pages
280
Langue
anglais
Résumé
Bernard-Soulier Syndrome (BSS) is caused by mutations inthe genes for platelet glycoprotein complex GPIb/V/IX. A 4-year-old boy with developmental delay experienced lifethreateningmucosal bleeding episodes triggered by trivialrespiratory infections. Giant platelets were present andristocetin-induced platelet aggregation was reduced, suggestingsevere BSS. Immune transmission electron microscopyshowed reduced expression of GPIb on thrombocytes. PCRand Southern analysis demonstrated that exon 1 and part ofexon 2 of GPIbβ was deleted on both alleles. Surprisingly,mapping of the deletion breakpoints revealed that the deletionextended 5′ from exon 1 of GPIbβ to include the whole genecoding for SEPT5 (septin 5). After allogeneic bone marrowtransplantation bleeding symptoms subsided while developmentaldelay persisted.In non-dividing cells (i.e. thrombocytes and neurons) septinsare implicated in exocytosis, vesicle trafficking and activemembrane movement. The unusual combination of BSS withmental retardation might be related to the functional deactivationof the two adjacent genes GPIbβ and SEPT5 and thusconstitute a novel contiguous gene syndrome. The contributionof SEPT5 deficiency to the severe bleeding symptomsand to developmental delay remains, however, to be proven.
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Création de la notice
14/03/2011 17:08
Dernière modification de la notice
20/08/2019 13:25
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