Mitochondrial 12S ribosomal RNA A1555G mutation associated with cardiomyopathy and hearing loss following high-dose chemotherapy and repeated aminoglycoside exposure

Anne-Sofie Skou; Lisbeth Tranebjærg; Tim Jensen; Henrik Hasle

doi:10.1016/j.jpeds.2013.10.024

Mitochondrial 12S ribosomal RNA A1555G mutation associated with cardiomyopathy and hearing loss following high-dose chemotherapy and repeated aminoglycoside exposure

Anne-Sofie Skou, Lisbeth Tranebjærg, Tim Jensen, Henrik Hasle

Medical Genetics Program

Research output: Contribution to journal › Journal article › Research › peer-review

13 Citations (Scopus)

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.

Original language	English
Journal	The Journal of Pediatrics
Volume	164
Issue number	2
Pages (from-to)	413-5
Number of pages	3
ISSN	0022-3476
DOIs	https://doi.org/10.1016/j.jpeds.2013.10.024
Publication status	Published - Feb 2014

Keywords

Aminoglycosides
Cardiomyopathies
Female
Hearing Loss, Sensorineural
Humans
Infant
Leukemia, Myeloid, Acute
Mutation
Pedigree
RNA, Ribosomal

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10.1016/j.jpeds.2013.10.024

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Mitochondrial 12S ribosomal RNA A1555G mutation associated with cardiomyopathy and hearing loss following high-dose chemotherapy and repeated aminoglycoside exposure. / Skou, Anne-Sofie; Tranebjærg, Lisbeth; Jensen, Tim et al.
In: The Journal of Pediatrics, Vol. 164, No. 2, 02.2014, p. 413-5.

Research output: Contribution to journal › Journal article › Research › peer-review

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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.",

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KW - Leukemia, Myeloid, Acute

KW - Mutation

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