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Comment
. 2016 Jun 9;127(23):2781-2.
doi: 10.1182/blood-2016-04-703215.

Platelet disorders: the next generation is in

A Koneti Rao  1 , Natthapol Songdej  1
Affiliations
Comment

Platelet disorders: the next generation is in

A Koneti Rao et al. Blood. .

Abstract

In this issue of Blood, Simeoni et al describe exciting results using a high-throughput sequencing (HTS) platform with 63 targeted genes in patients with heritable bleeding and thrombotic disorders, and Stritt et al advance a diaphanous-related formin 1 (DIAPH1) variant as a cause of inherited macrothrombocytopenia (MTP) and hearing loss.,

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Conflict of interest statement

Conflict-of-interest disclosure: The authors declare no competing financial interests.

Comment on

  • A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
    Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C; BRIDGE-BPD Consortium; Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD. Stritt S, et al. Blood. 2016 Jun 9;127(23):2903-14. doi: 10.1182/blood-2015-10-675629. Epub 2016 Feb 24. Blood. 2016. PMID: 26912466
  • A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
    Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E. Simeoni I, et al. Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15. Blood. 2016. PMID: 27084890 Free PMC article.

References

    1. Simeoni I, Stephens JC, Hu F, et al. A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. Blood. 2016 127(23):2791-2803. - PMC - PubMed
    1. Stritt S, Nurden P, Turro E, et al. A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. Blood. 2016 127(23):2903-2914. - PubMed
    1. Westbury SK, Turro E, Greene D, et al. BRIDGE-BPD Consortium. Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders. Genome Med. 2015;7(1):36. - PMC - PubMed
    1. Lentaigne C, Freson K, Laffan MA, Turro E, Ouwehand WH. on behalf of the BRIDGE-BPD Consortium and the ThromboGenomics Consortium. Inherited platelet disorders: toward DNA-based diagnosis. Blood. 2016;127(23):2814-2823. - PMC - PubMed
    1. Turro E, Greene D, Wijgaerts A, et al. BRIDGE-BPD Consortium. A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. Sci Transl Med. 2016;8(328):328ra30. - PMC - PubMed