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    Science. 2009 Nov 6;326(5954):817. Epub 2009 Oct 8.

    Genotype analysis identifies the cause of the "royal disease".

    Rogaev EI, Grigorenko AP, Faskhutdinova G, Kittler EL, Moliaka YK.

    Source

    University of Massachusetts Medical School, 303 Belmont Street, Worcester, MA 01604, USA. Evgeny.Rogaev@umassmed.edu

    Abstract

    The "royal disease," a blood disorder transmitted from Queen Victoria to European royal families, is a striking example of X-linked recessive inheritance. Although the disease is widely recognized to be a form of the blood clotting disorder hemophilia, its molecular basis has never been identified, and the royal disease is now likely extinct. We identified the likely disease-causing mutation by applying genomic methodologies (multiplex target amplification and massively parallel sequencing) to historical specimens from the Romanov branch of the royal family. The mutation occurs in F9, a gene on the X chromosome that encodes blood coagulation factor IX, and is predicted to alter RNA splicing and to lead to production of a truncated form of factor IX. Thus, the royal disease is the severe form of hemophilia, also known as hemophilia B or Christmas disease.

    PMID:
    19815722
    [PubMed - indexed for MEDLINE]
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