Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2016 Jan 21;127(3):362-5.
doi: 10.1182/blood-2015-09-668673. Epub 2015 Nov 16.

Germline RBBP6 mutations in familial myeloproliferative neoplasms

Ashot S Harutyunyan  1 , Roberto Giambruno  1 , Christian Krendl  1 , Alexey Stukalov  1 , Thorsten Klampfl  1 , Tiina Berg  1 , Doris Chen  1 , Jelena D Milosevic Feenstra  1 , Roland Jäger  1 , Bettina Gisslinger  2 , Heinz Gisslinger  2 , Elisa Rumi  3 , Francesco Passamonti  4 , Daniela Pietra  3 , André C Müller  1 , Katja Parapatics  1 , Florian P Breitwieser  1 , Richard Herrmann  5 , Jacques Colinge  1 , Keiryn L Bennett  1 , Giulio Superti-Furga  1 , Mario Cazzola  3 , Emma Hammond  6 , Robert Kralovics  7
Affiliations

Germline RBBP6 mutations in familial myeloproliferative neoplasms

Ashot S Harutyunyan et al. Blood. .
No abstract available

PubMed Disclaimer

Figures

Figure 1
Figure 1
Identification of the germline mutation causing MPNs in the Australian family and screening in other MPN cases. (A) Family tree of the Australian family. The patients with mutations in JAK2, MPL, and CALR are marked. Below the mutations, the age at diagnosis is indicated. (B) Genomic regions shared by the 3 affected members in the family identified by the segregation exclusion analysis (red horizontal bars). Arrows indicate the physical position of the candidate genes RBBP6, ARMC5, and C20orf3. (C) Validation of the mutations in RBBP6, ARMC5, and C20orf3 segregating with the disease in the pedigree. The locations of mutations are marked with an arrow. (D) The RBBP6 mutations found in familial cases of MPNs. The respective family trees are shown. For both families, DNA was available only from 1 member and the segregation of the mutation with MPN was not possible to establish. (E) The 2 unique RBBP6 mutations found in 3 sporadic cases of MPNs. (F) The schematic structure of the RBBP6 protein with known and predicted domains. The locations of the detected mutations that are not observed in healthy controls are shown with stars. AAS, absence of allele-sharing; BR, binding region; DWNN, domain with no name; Mb, megabase pair; Znf, zinc finger domain.
See this image and copyright information in PMC

References

    1. Kralovics R, Stockton DW, Prchal JT. Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease. Blood. 2003;102(10):3793–3796. - PubMed
    1. Rumi E, Passamonti F, Pietra D, et al. JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders. Cancer. 2006;107(9):2206–2211. - PubMed
    1. Bellanné-Chantelot C, Chaumarel I, Labopin M, et al. Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. Blood. 2006;108(1):346–352. - PubMed
    1. Landgren O, Goldin LR, Kristinsson SY, Helgadottir EA, Samuelsson J, Björkholm M. Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24,577 first-degree relatives of 11,039 patients with myeloproliferative neoplasms in Sweden. Blood. 2008;112(6):2199–2204. - PMC - PubMed
    1. James C, Ugo V, Le Couédic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434(7037):1144–1148. - PubMed

Publication types

LinkOut - more resources