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JIMD Reports, Volume 44

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Cover of 'JIMD Reports, Volume 44'

Table of Contents

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    Book Overview
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    Chapter 114 The Second Case of Saposin A Deficiency and Altered Autophagy
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    Chapter 115 A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy
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    Chapter 116 Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency
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    Chapter 117 Sialuria: Ninth Patient Described Has a Novel Mutation in GNE
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    Chapter 118 Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy
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    Chapter 119 Psychosocial Functioning in Parents of MPS III Patients
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    Chapter 121 An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study
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    Chapter 125 Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients
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    Chapter 126 Cobalamin D Deficiency Identified Through Newborn Screening
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    Chapter 127 Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties
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    Chapter 128 DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients
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    Chapter 129 Enzyme Replacement Therapy During Pregnancy in Fabry Patients
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    Chapter 132 Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia
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    Chapter 133 Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort
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    Chapter 135 Reversible Cerebral White Matter Abnormalities in Homocystinuria
Attention for Chapter 115: A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy
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Chapter title
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy
Chapter number 115
Book title
JIMD Reports, Volume 44
Published in
JIMD Reports, January 2018
DOI 10.1007/8904_2018_115
Pubmed ID
Book ISBNs
978-3-66-258616-7, 978-3-66-258617-4

Arcangela Iuso, Bader Alhaddad, Corina Weigel, Urania Kotzaeridou, Elisa Mastantuono, Thomas Schwarzmayr, Elisabeth Graf, Caterina Terrile, Holger Prokisch, Tim M. Strom, Georg F. Hoffmann, Thomas Meitinger, Tobias B. Haack, Iuso, Arcangela, Alhaddad, Bader, Weigel, Corina, Kotzaeridou, Urania, Mastantuono, Elisa, Schwarzmayr, Thomas, Graf, Elisabeth, Terrile, Caterina, Prokisch, Holger, Strom, Tim M., Hoffmann, Georg F., Meitinger, Thomas, Haack, Tobias B.


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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Mendeley readers

The data shown below were compiled from readership statistics for 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 12 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 3 25%
Student > Master 3 25%
Researcher 2 17%
Lecturer 1 8%
Other 1 8%
Other 0 0%
Unknown 2 17%
Readers by discipline Count As %
Medicine and Dentistry 4 33%
Agricultural and Biological Sciences 3 25%
Neuroscience 1 8%
Biochemistry, Genetics and Molecular Biology 1 8%
Unknown 3 25%

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