Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity

Simon Berhe; Matthew M. Heeney; Dean R. Campagna; John F. Thompson; Eric J. White; Tristen Ross; Roy W.A. Peake; Jeffery D. Hanrahan; Vilmarie Rodriguez; Deborah L. Renaud; Mrinal S. Patnaik; Eugenia Chang; Sylvia S. Bottomley; Mark D. Fleming

doi:10.3324/haematol.2018.199109

Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity

Simon Berhe, Matthew M. Heeney, Dean R. Campagna, John F. Thompson, Eric J. White, Tristen Ross, Roy W.A. Peake, Jeffery D. Hanrahan, Vilmarie Rodriguez, Deborah L. Renaud, Mrinal S. Patnaik, Eugenia Chang, Sylvia S. Bottomley, Mark D. Fleming

Hematology

Research output: Contribution to journal › Letter › peer-review

5 Scopus citations

Original language	English (US)
Pages (from-to)	e561-e563
Journal	Haematologica
Volume	103
Issue number	12
DOIs	https://doi.org/10.3324/haematol.2018.199109
State	Published - Nov 30 2018

ASJC Scopus subject areas

Hematology

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10.3324/haematol.2018.199109

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Berhe, S., Heeney, M. M., Campagna, D. R., Thompson, J. F., White, E. J., Ross, T., Peake, R. W. A., Hanrahan, J. D., Rodriguez, V., Renaud, D. L., Patnaik, M. S., Chang, E., Bottomley, S. S., & Fleming, M. D. (2018). Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity. Haematologica, 103(12), e561-e563. https://doi.org/10.3324/haematol.2018.199109

Berhe, S, Heeney, MM, Campagna, DR, Thompson, JF, White, EJ, Ross, T, Peake, RWA, Hanrahan, JD, Rodriguez, V, Renaud, DL, Patnaik, MS, Chang, E, Bottomley, SS & Fleming, MD 2018, 'Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity', Haematologica, vol. 103, no. 12, pp. e561-e563. https://doi.org/10.3324/haematol.2018.199109

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title = "Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity",

author = "Simon Berhe and Heeney, {Matthew M.} and Campagna, {Dean R.} and Thompson, {John F.} and White, {Eric J.} and Tristen Ross and Peake, {Roy W.A.} and Hanrahan, {Jeffery D.} and Vilmarie Rodriguez and Renaud, {Deborah L.} and Patnaik, {Mrinal S.} and Eugenia Chang and Bottomley, {Sylvia S.} and Fleming, {Mark D.}",

note = "Funding Information: 1Department of Pathology, Boston Children's Hospital, MA; 2Dana-Farber/Boston Children{\textquoteright}s Cancer and Blood Disorders Center, MA;3Claritas Genomics, Cambridge, MA;4Department of Laboratory Medicine, Boston Children's Hospital, MA;5Driscoll Children{\textquoteright}s Hospital, Corpus Christi, TX;6Department of Pediatrics; 7Department of Neurology;8Department of Medicine Mayo Clinic, Rochester, MN;9St. Luke{\textquoteright}s Health System, Boise, ID and 10Department of Medicine, University of Oklahoma College of Medicine, OK, USA Acknowledgments: the authors thank the families described in this work for their participation. Susan Wong is gratefully acknowledged for administrative support of the research protocol. This work was supported by R01 DK087992 to M.D.F. S.B. was supported by the German National Academic Foundation and German Academic Exchange Service. S.S.B. was supported by the US Department of Veterans Affairs and the Oklahoma Center for Advancement of Science and Technology. J.F.T. E.J.W., and T.R. were employees of Claritas Genomics at the time this work was performed. Correspondence: mark.fleming@childrens.harvard.edu doi:10.3324/haematol.2018.199109 Information on authorship, contributions, and financial & other disclosures was provided by the authors and is available with the online version of this article at www.haematologica.org.",

year = "2018",

month = nov,

day = "30",

doi = "10.3324/haematol.2018.199109",

language = "English (US)",

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pages = "e561--e563",

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T1 - Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity

AU - Berhe, Simon

AU - Heeney, Matthew M.

AU - Campagna, Dean R.

AU - Thompson, John F.

AU - White, Eric J.

AU - Ross, Tristen

AU - Peake, Roy W.A.

AU - Hanrahan, Jeffery D.

AU - Rodriguez, Vilmarie

AU - Renaud, Deborah L.

AU - Patnaik, Mrinal S.

AU - Chang, Eugenia

AU - Bottomley, Sylvia S.

AU - Fleming, Mark D.

N1 - Funding Information: 1Department of Pathology, Boston Children's Hospital, MA; 2Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, MA;3Claritas Genomics, Cambridge, MA;4Department of Laboratory Medicine, Boston Children's Hospital, MA;5Driscoll Children’s Hospital, Corpus Christi, TX;6Department of Pediatrics; 7Department of Neurology;8Department of Medicine Mayo Clinic, Rochester, MN;9St. Luke’s Health System, Boise, ID and 10Department of Medicine, University of Oklahoma College of Medicine, OK, USA Acknowledgments: the authors thank the families described in this work for their participation. Susan Wong is gratefully acknowledged for administrative support of the research protocol. This work was supported by R01 DK087992 to M.D.F. S.B. was supported by the German National Academic Foundation and German Academic Exchange Service. S.S.B. was supported by the US Department of Veterans Affairs and the Oklahoma Center for Advancement of Science and Technology. J.F.T. E.J.W., and T.R. were employees of Claritas Genomics at the time this work was performed. Correspondence: mark.fleming@childrens.harvard.edu doi:10.3324/haematol.2018.199109 Information on authorship, contributions, and financial & other disclosures was provided by the authors and is available with the online version of this article at www.haematologica.org.

PY - 2018/11/30

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Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity

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