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

Affiliations

Simon Berhe

Department of Pathology, Boston Children’s Hospital, MA

Matthew M. Heeney

Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, MA

Dean R. Campagna

Department of Pathology, Boston Children’s Hospital, MA

John F. Thompson

Claritas Genomics, Cambridge, MA

Eric J. White

Claritas Genomics, Cambridge, MA

Tristen Ross

Claritas Genomics, Cambridge, MA

Roy W. A. Peake

Department of Laboratory Medicine, Boston Children’s Hospital, MA

Jeffery D. Hanrahan

Driscoll Children’s Hospital, Corpus Christi, TX

Vilmarie Rodriguez

Department of Pediatrics

Deborah L. Renaud

Department of Pediatrics;Department of Neurology

Mrinal S. Patnaik

Department of Medicine Mayo Clinic, Rochester, MN

Eugenia Chang

St. Luke’s Health System, Boise, ID

Sylvia S. Bottomley

Department of Medicine, University of Oklahoma College of Medicine, OK, USA

Mark D. Fleming

Department of Pathology, Boston Children’s Hospital, MA;Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, MA