title: Mitochondrial 12S ribosomal RNA A1555G mutation associated with cardiomyopathy and hearing loss following high-dose chemotherapy and repeated aminoglycoside exposure.
abstract: A 19-month-old girl with the A1555G mitochondrial mutation in the 12S ribosomal RNA gene and acute myelogenous leukemia developed dilated cardiomyopathy and bilateral sensorineural hearing loss before undergoing allogeneic stem cell transplantation. She had received gentamicin during episodes of febrile neutropenia. Testing for the A1555G mutation is recommended in patients frequently treated with aminoglycosides.
authors.affiliation: Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: Anne-Sofie
authors.initials: AS
authors.lastname: Skou
authors.affiliation: Department of Audiology, HS Bispebjerg Hospital, Copenhagen, Denmark; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Tranebjærg
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen, Denmark.
authors.forename: Tim
authors.initials: T
authors.lastname: Jensen
authors.affiliation: Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark. Electronic address: hasle@dadlnet.dk.
authors.forename: Henrik
authors.initials: H
authors.lastname: Hasle
mesh_terms: D000617:Aminoglycosides / Q000009:adverse effects* / Q000627:therapeutic use; D009202:Cardiomyopathies / Q000139:chemically induced* / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000139:chemically induced* / Q000235:genetics; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000188:drug therapy; D009154:Mutation; D010375:Pedigree; D012335:RNA, Ribosomal / Q000235:genetics*
chemical_list: D000617:Aminoglycosides; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S
keywords: AML; Acute myelogenous leukemia; FS; SCT; SNHL; Sensorineural hearing loss; Shortening fraction; Stem cell transplantation