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Microdeletion Syndromes
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Gopalrao V. N. Velagaleti, Nancy J. Carpenter
Patients with distal 11q deletions have been reported with an unusual thrombocytopenia with platelet inclusion bodies, dysmegakaryopoiesis, mild congenital anomalies, and mental retardation termed “Paris–Trousseau syndrome” (55). Upon electron microscopic examination, the platelet inclusion bodies were found to be giant α granules. Recent reports suggest that Paris–Trousseau syndrome is a variant of the Jacobsen syndrome, and the thrombocytopenia observed in all cases of chromosome 11q23.3 deletion is due to dysmegakaryopoieses (56).
ETV6-related thrombocytopenia and platelet dysfunction
Published in Platelets, 2021
Jorge Di Paola, Marlie H. Fisher
ETV6 has classically been described as a key transcriptional regulator of hematopoiesis. Global deletion of Etv6 in murine models results in embryonic lethality between E10.5 and E11.5 with yolk sac angiogenic defects [8,9]. Conditional knockout of Etv6 in megakaryocyte erythroid progenitor cells results in mice that are thrombocytopenic [8,10] with an increased frequency of megakaryocyte colony forming cells. These findings are consistent with a terminal defect in megakaryocyte maturation, and a compensatory increase in megakaryocyte progenitor cells. Etv6 controls the survival of hematopoietic stem cells [8] and is required late in the development of megakaryocytes, where it may be acting in concert with other transcriptional regulators of megakaryopoiesis to bind megakaryocyte specific promoters. ETV6 is typically described as a transcriptional repressor [11], but only a few targets of ETV6 have been reported [12,13]. Interestingly, the genes that encode for megakaryocyte/platelet glycoprotein 1bα (GP1BA) and glycoprotein IX (GP9) are among those transcriptional targets of ETV6 [14]. Additionally, it has been reported that ETV6 can interact with another platelet and megakaryocyte specific Ets transcription factor, FLI1, inhibiting its transcriptional activity [14]. FLI1, like ETV6, has been implicated in the heritable thrombocytopenia Paris-Trousseau syndrome [15].
Screening and diagnosis of inherited platelet disorders
Published in Critical Reviews in Clinical Laboratory Sciences, 2022
Alex Bourguignon, Subia Tasneem, Catherine P. Hayward
A bleeding history evaluation for a PFD should also be mindful of syndromic features that suggest a specific disorder (see reviews [1,99–102]). For example, HPS is associated with oculocutaneous albinism, lung fibrosis, and colitis; Jacobsen/Paris-Trousseau syndrome (PTS) is associated with facial dysmorphism, cardiac defects, and mental retardation; MYH9-related disorders are associated with inclusion bodies in neutrophils (Döhle bodies) with or without sensorineural hearing defects, elevation of liver enzymes, nephritis, and/or cataracts; thrombocytopenia with absent radius (TAR) syndrome is associated with absent radii; and WAS is associated with microplatelets, eczema, and susceptibility to infections.