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

10 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

Access to Document

10.1016/j.jpeds.2013.10.024

Cite this

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

@article{495895a95b064ef78441af45cc9d41c8,

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.",

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

author = "Anne-Sofie Skou and Lisbeth Tranebj{\ae}rg and Tim Jensen and Henrik Hasle",

year = "2014",

month = feb,

doi = "10.1016/j.jpeds.2013.10.024",

language = "English",

volume = "164",

pages = "413--5",

journal = "Journal of Pediatrics",

issn = "0022-3476",

publisher = "Mosby Inc.",

number = "2",

}

TY - JOUR

T1 - Mitochondrial 12S ribosomal RNA A1555G mutation associated with cardiomyopathy and hearing loss following high-dose chemotherapy and repeated aminoglycoside exposure

AU - Skou, Anne-Sofie

AU - Tranebjærg, Lisbeth

AU - Jensen, Tim

AU - Hasle, Henrik

PY - 2014/2

Y1 - 2014/2

N2 - 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.

AB - 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.

KW - Aminoglycosides

KW - Cardiomyopathies

KW - Female

KW - Hearing Loss, Sensorineural

KW - Humans

KW - Infant

KW - Leukemia, Myeloid, Acute

KW - Mutation

KW - Pedigree

KW - RNA, Ribosomal

U2 - 10.1016/j.jpeds.2013.10.024

DO - 10.1016/j.jpeds.2013.10.024

M3 - Journal article

C2 - 24252789

SN - 0022-3476

VL - 164

SP - 413

EP - 415

JO - Journal of Pediatrics

JF - Journal of Pediatrics

IS - 2

ER -

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

Abstract

Keywords

Access to Document

Fingerprint

Cite this