Literature DB >> 24252789

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

Anne-Sofie Skou1, Lisbeth Tranebjærg2, Tim Jensen3, Henrik Hasle4.   

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.
Copyright © 2014 Mosby, Inc. All rights reserved.

Entities:  

Keywords:  AML; Acute myelogenous leukemia; FS; SCT; SNHL; Sensorineural hearing loss; Shortening fraction; Stem cell transplantation

Mesh：

Substances：

Year:  2013        PMID： 24252789     DOI： 10.1016/j.jpeds.2013.10.024

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  4 in total

1.  Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation.

Authors:  Ping Gu; Guojian Wang; Xue Gao; Dongyang Kang; Pu Dai; Shasha Huang
Journal:  BMC Med Genomics       Date:  2022-05-25       Impact factor: 3.622

2.  Evaluation of Gentamicin Exposure in the Neonatal Intensive Care Unit and Hearing Function at Discharge.

Authors:  Mihai Puia-Dumitrescu; Olivia M Bretzius; Nia Brown; James A Fitz-Henley; Rebecca Ssengonzi; Caroline S Wechsler; Keyaria D Gray; Daniel K Benjamin; P Brian Smith; Reese H Clark; Daniel Gonzalez; Christoph P Hornik
Journal:  J Pediatr       Date:  2018-09-21       Impact factor: 4.406

3.  Whole mitochondrial genome sequencing of Malaysian patients with cardiomyopathy.

Authors:  Sheh Wen Kuan; Kek Heng Chua; E-Wei Tan; Lay Koon Tan; Alexander Loch; Boon Pin Kee
Journal:  PeerJ       Date:  2022-04-14       Impact factor: 3.061

4.  Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA.

Authors:  Mouna Habbane; Laura Llobet; M Pilar Bayona-Bafaluy; José E Bárcena; Leticia Ceberio; Covadonga Gómez-Díaz; Laura Gort; Rafael Artuch; Julio Montoya; Eduardo Ruiz-Pesini
Journal:  Genes (Basel)       Date:  2020-08-27       Impact factor: 4.096
  4 in total

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