Thrombocytopenia-absent radius syndrome

Mitral Valve Repair in a Patient with Thrombocytopenia-Absent Radius Syndrome: Case Report

The Heart Surgery Forum ◽

10.1532/hsf98.20101016 ◽

2010 ◽

Vol 13 (5) ◽

pp. E336-E338

Author(s):

Onur Gurer ◽

Ahmet Kirbas ◽

Murat Ugurlucan ◽

Omer Isik

Keyword(s):

Case Report ◽

Mitral Valve ◽

Mitral Valve Repair ◽

Valve Repair ◽

Absent Radius

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Thrombocytopenia-absent radius (TAR) syndrome: A clinical genetic series of 14 further cases. Impact of the associated 1q21.1 deletion on the genetic counselling

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2011.05.001 ◽

2011 ◽

Vol 54 (5) ◽

pp. e471-e477 ◽

Cited By ~ 21

Author(s):

Ali Houeijeh ◽

Joris Andrieux ◽

Pascale Saugier-Veber ◽

Albert David ◽

Alice Goldenberg ◽

...

Keyword(s):

Genetic Counselling ◽

Clinical Genetic ◽

Tar Syndrome ◽

Absent Radius ◽

1Q21.1 Deletion

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Thrombocytopenia-Absent Radius Syndrome

Atlas of Genetic Diagnosis and Counseling ◽

10.1007/978-1-60327-161-5_182 ◽

2007 ◽

pp. 962-966

Keyword(s):

Absent Radius

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The Y14-p53 Regulatory Circuit in Megakaryocyte Differentiation and Thrombocytopenia

10.1101/2020.11.03.367508 ◽

2020 ◽

Author(s):

Chun-Hao Su ◽

Wei-Ju Liao ◽

Wei-Chi Ke ◽

Ruey-Bing Yang ◽

Woan-Yuh Tarn

Keyword(s):

Bone Marrow ◽

Platelet Count ◽

Ex Vivo ◽

Critical Role ◽

Platelet Production ◽

Noncoding Regions ◽

Regulatory Circuit ◽

Hel Cells ◽

Absent Radius ◽

Megakaryocyte Differentiation

SUMMARYThrombocytopenia-absent radius syndrome is caused by a deletion in chromosome 1q21.1 in trans with RBM8A mutations in the noncoding regions. We generated megakaryocyte-specific Rbm8a knockout (Rbm8aKOMK) mice that exhibited marked thrombocytopenia, internal hemorrhage, and splenomegaly, indicating a disorder of platelet production. Rbm8aKOMK mice accumulated immature megakaryocytes in the bone marrow and spleen. Depletion of Y14/RBM8A in human erythroleukemia (HEL) cells inhibited phorbol ester-induced polyploidy and downregulated the signaling pathways associated with megakaryocyte maturation. Accordingly, Rbm8aKOMK mice had reduced expression of surface glycoproteins on platelets and impaired coagulation. Moreover, p53 level was increased in Y14-depleted HEL cells and Rbm8aKOMK megakaryocytes. Treatment with a p53 inhibitor restored ex vivo differentiation of Rbm8aKOMK megakaryocytes and unexpectedly activated Y14 expression in HEL cells. Knockout of Trp53 in part restored the platelet count of Rbm8aKOMK mice. These results indicate that the Y14-p53 circuit plays a critical role in megakaryocyte differentiation and platelet production.

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