A novel splice donor mutation in the thrombopoietin gene leads to exon 2 skipping in a Filipino family with hereditary thrombocythemia

Blood

Volumn 118, Issue 26, 2011, Pages 6988-6990

  Zhang, Bing ^a   Ng, Dana ^a   Jones, Carol ^a   Oh, Stephen T ^b   Nolan, Garry P ^a   Salehi, Shiva ^a   Wong, Wendy ^a   Zehnder, James L ^a   Gotlib, Jason ^c  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c STANFORD CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

STAT5 PROTEIN; THROMBOPOIETIN;

CONTROLLED STUDY; DONOR; EXON SKIPPING; FILIPINO; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HUMAN; HUMAN CELL; HUMAN TISSUE; LETTER; MYELOID PROGENITOR CELL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; THROMBOCYTHEMIA;

EID: 84255176445     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2011-10-386177     Document Type: Letter

References (6)

1. Teofili L, Larocca LM. Advances in understanding the pathogenesis of familial thrombocythaemia. Br J Haematol. 2011;152(6):701-712.
2. Marcucci R, Romano M. Thrombopoietin and its splicing variants: Structure and functions in thrombopoiesis and beyond. Biochim Biophys Acta. 2008; 1782(7-8):427-432.
3. Geddis AE, Linden HM, Kaushansky K. Thrombopoietin: a pan-hematopoietic cytokine. Cytokine Growth Factor Rev. 2002;13(1):61-73. (Pubitemid 34436962)
4. Oh ST, Simonds EF, Jones C, et al. Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. Blood. 2010;116(6):988-992.
5. Pohlenz J, Dumitrescu A, Aumann U, et al. Congenital secondary hypothyroidism caused by exon skipping due to homozygous donor splice site mutation in the TSHß-subunit gene. J Clin Endocrinol Metab. 2002;87(1):336-339. (Pubitemid 34084711)
6. Wiestner A, Schlemper RJ, van der Maas AP, Skoda RC. An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nat Genet. 1998;18(1):49-52. (Pubitemid 28027878)