A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome

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Publikace nespadá pod Lékařskou fakultu, ale pod Středoevropský technologický institut. Oficiální stránka publikace je na webu muni.cz.

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TRIZULJAK Jakub STAŇO KOZUBÍK Kateřina RADOVÁ Lenka PEŠOVÁ Michaela PÁL Karol RÉBLOVÁ Kamila STEHLÍKOVÁ Olga SMEJKAL Petr ZAVŘELOVÁ Jiřina PACEJKA M. MAYER Jiří POSPÍŠILOVÁ Šárka DOUBEK Michael

Rok publikování 2018
Druh Článek v odborném periodiku
Časopis / Zdroj Platelets
Fakulta / Pracoviště MU

Středoevropský technologický institut

Citace
www https://www.tandfonline.com/doi/full/10.1080/09537104.2018.1529300
Doi http://dx.doi.org/10.1080/09537104.2018.1529300
Klíčová slova Autosomal dominant variant; GP1BA; Inherited thrombocytopenia; monoallelic Bernard-Soulier syndrome
Popis Mutations in the GP1BA gene have been associated with platelet-type von Willebrand disease and Bernard-Soulier syndrome. Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia and mild bleeding. We performed analyses of seven family members. Using whole-exome sequencing of germline DNA samples, we identified a heterozygous single-nucleotide change in GP1BA (exone2:c.176T>G), encoding a p.Leu59Arg substitution in the N-terminal domain, segregating with macrothrombocytopenia. This variant has not been previously reported. We also analysed the structure of the detected sequence variant in silica In particular, we used the crystal structure of the human platelet receptor GP lba N-terminal domain. Replacement of aliphatic amino-acid Leu 59 with charged, polar and larger arginine probably disrupts the protein structure. An autosomal dominant mode of inheritance, a family history of mild bleeding episodes, aggregation pattern in affected individuals together with evidence of mutation occurring in part of the GP1BA gene encoding the leucine-rich repeat region suggest a novel variant causing monoallelic Bernard-Soulier syndrome.
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