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Expanding the phenotype of SLC25A42 ‐associated mitochondrial encephalomyopathy
Author(s) -
Almannai M.,
Alasmari A.,
Alqasmi A.,
Faqeih E.,
Al Mutairi F.,
Alotaibi M.,
Samman M.M.,
Eyaid W.,
Aljadhai Y.I.,
Shamseldin H.E.,
Craigen W.,
Alkuraya F.S.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13210
Subject(s) - lactic acidosis , mitochondrial encephalomyopathy , mitochondrial myopathy , phenotype , mitochondrial disease , biology , genetics , mitochondrial dna , myopathy , mutation , mitochondrion , leigh disease , gene , endocrinology
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.