Expanding the phenotype of SLC25A42 -associated mitochondrial encephalomyopathy
- Resource Type
- Authors
- Hanan E. Shamseldin; Eissa Faqeih; A. Alqasmi; Fowzan S. Alkuraya; Y.I. Aljadhai; F. Al Mutairi; Mohammed Almannai; William J. Craigen; Manar Samman; Ali Alasmari; Maha Alotaibi; Wafaa Eyaid
- Source
- Clinical Genetics. 93:1097-1102
- Subject
- Adult
Male
0301 basic medicine
Mitochondrial encephalomyopathy
Adolescent
Mitochondrial disease
Mitochondrion
Biology
DNA, Mitochondrial
Young Adult
03 medical and health sciences
Mitochondrial myopathy
Mitochondrial Encephalomyopathies
Genetics
medicine
Humans
Point Mutation
Child
Inner mitochondrial membrane
Genetics (clinical)
Infant
Mitochondrial Myopathies
Muscle weakness
medicine.disease
Phenotype
Mitochondria
Pedigree
030104 developmental biology
Child, Preschool
Lactic acidosis
Nucleotide Transport Proteins
Acidosis, Lactic
Female
medicine.symptom
- Language
- ISSN
- 0009-9163
SLC25A42 gene encodes an inner mitochondrial membrane protein that imports Coenzyme A into the mitochondrial matrix. A mutation in this gene was recently reported in a subject born to consanguineous parents who presented with mitochondrial myopathy with muscle weakness and lactic acidosis. In this report, we present 12 additional individuals with the same founder mutation who presented with variable manifestations ranging from asymptomatic lactic acidosis to a severe phenotype characterized by developmental regression and epilepsy. Our report confirms the link between SLC25A42 and mitochondrial disease in humans, and suggests that pathogenic variants in SLC25A42 should be interpreted with the understanding that the associated phenotype may be highly variable.