A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme a, causes metabolic crises and epileptic encephalopathy

Iuso A, Alhaddad B, Weigel C, Kotzaeridou U, Mastantuono E, Schwarzmayr T, Graf E, Terrile C, Prokisch H, Strom TM, Hoffmann GF, Meitinger T, Haack TB (2019)


Publication Type: Book chapter / Article in edited volumes

Publication year: 2019

Journal

Publisher: Springer

Series: JIMD Reports

Book Volume: 44

Pages Range: 1-7

DOI: 10.1007/8904_2018_115

Abstract

SLC25A42 is an inner mitochondrial membrane protein which has been shown to transport coenzyme A through a lipid bilayer in vitro. A homozygous missense variant in this gene has been recently reported in 13 subjects of Arab descent presenting with mitochondriopathy with variable clinical manifestations. By exome sequencing, we identified two additional individuals carrying rare variants in this gene. One subject was found to carry the previously reported missense variant in homozygous state, while the second subject carried a homozygous canonical splice site variant resulting in a splice defect. With the identification of two additional cases, we corroborate the association between rare variants in SLC25A42 and a clinical presentation characterized by myopathy, developmental delay, lactic acidosis, and encephalopathy. Furthermore, we highlight the biochemical consequences of the splice defect by measuring a mild decrease of coenzyme A content in SLC25A42-mutant fibroblasts.

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APA:

Iuso, A., Alhaddad, B., Weigel, C., Kotzaeridou, U., Mastantuono, E., Schwarzmayr, T.,... Haack, T.B. (2019). A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme a, causes metabolic crises and epileptic encephalopathy. In (pp. 1-7). Springer.

MLA:

Iuso, Arcangela, et al. "A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme a, causes metabolic crises and epileptic encephalopathy." Springer, 2019. 1-7.

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