Chapter title |
COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis
|
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Chapter number | 13 |
Book title |
JIMD Reports, Volume 34
|
Published in |
JIMD Reports, January 2016
|
DOI | 10.1007/8904_2016_13 |
Pubmed ID | |
Book ISBNs |
978-3-66-255585-9, 978-3-66-255586-6
|
Authors |
C. Bursle, A. Narendra, R. Chuk, J. Cardinal, R. Justo, B. Lewis, D. Coman, Bursle, C., Narendra, A., Chuk, R., Cardinal, J., Justo, R., Lewis, B., Coman, D. |
Abstract |
We present the second report of combined oxidative phosphorylation deficiency-9. The infant presented in the neonatal period with poor feeding, lactic acidosis and sensorineural hearing loss. He subsequently developed a lethal hypertrophic cardiomyopathy during infancy. Cirrhosis and interstitial nephritis were identified at autopsy. Exome sequencing has detected compound heterozygous mutations in the MRPL3 gene which encodes a large mitochondrial ribosome subunit protein. We identified a known heterozygous variant NM_007208 c.950>G (Pro317Arg) in the MRPL3 gene and a novel heterozygous mutation NM_007208 c.49delC p.(Arg17Aspfs*57). Mutations in MRPL3 have previously been shown to alter ribosome assembly and cause abnormal function of multiple respiratory chain complexes. Our case adds to the evolving knowledge of disorders of mitochondrial translation. |
Mendeley readers
Geographical breakdown
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Unknown | 14 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 4 | 29% |
Student > Ph. D. Student | 3 | 21% |
Student > Bachelor | 2 | 14% |
Student > Master | 1 | 7% |
Unknown | 4 | 29% |
Readers by discipline | Count | As % |
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Agricultural and Biological Sciences | 1 | 7% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 7% |
Unknown | 6 | 43% |