Abstract

LUNA BARRON, Beatriz; LIMACHE VALDERRAMA, Silvana María  and  NINAHUANCA TERAN, Aneliz. MOLECULAR ANALYSIS OF A BOLIVIAN PATIENT WITH SYNDROMIC THROMBOCYTOPENIA RELATED TO THE MYH9 GENE. Rev. Méd. La Paz [online]. 2023, vol.29, n.1, pp.59-64.  Epub June 30, 2023. ISSN 1726-8958.

Thrombocytopenia as a reason for consultation requires an intense search to guide extrahematological manifestations. Megakaryogenesis goes through different stages depending on the interaction of several genes, including MYH9, whose expression allows proper formation and migration of proplatelets when released into the bloodstream, at the same time, there are structures with similar physiology at the cytoskeleton level (podocytes, cochlear cilia, etc.) that could be linked to data on hearing loss, kidney disease, cataracts and elevated liver enzymes leading to a disease related to the MYH9 gene. We present the case of an adolescent, male, with recurrent thrombocytopenia, with a history of a father with nonspecific coagulopathy, hearing loss, chronic kidney failure, who died at the age of 34 due to intraparenchymal hemorrhage and severe cerebral edema, in whom identifies a heterozygous pathogenic variant in the MYH9 gene, highlighting the variable expressivity and pleiotropic effects of this gene.

Keywords : MYH9 gene; syndromic thrombocytopenia.

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