biostudies-literatureBraun FBundesministerium für Bildung und ForschungFrench Muscular Dystrophy AssociationMinisterium für Innovation, Wissenschaft und Forschung des Landes Nordrhein-WestfalenEuropean Regional Development Fund7835https://www.ebi.ac.uk/biostudies/studies/S-EPMC8345956biostudies-literatureUnknown22(15)Mutations in the <i>SPATA5</i> gene are associated with epilepsy, hearing loss and mental retardation syndrome (EHLMRS). While <i>SPATA5</i> is ubiquitously expressed and is attributed a role within mitochondrial morphogenesis during spermatogenesis, there is only limited knowledge about the associated muscular and molecular pathology. This study reports on a comprehensive workup of muscular pathology, including proteomic profiling and microscopic studies, performed on an 8-year-old girl with typical clinical presentation of EHLMRS, where exome analysis revealed two clinically relevant, compound-heterozygous variants in <i>SPATA5</i>. Proteomic profiling of a quadriceps biopsy showed the dysregulation of 82 proteins, out of which 15 were localized in the mitochondrion, while 19 were associInternational journal of molecular sciencesMuscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.PMC834595621466unNME-GPSBraun FKolbel HWortmann SSickmann AWagner MMarteau TProkisch HSchara-Schmidt UForster FDella Marina AHentschel AHertel SRoos AfalseMuscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.Mutations in the <i>SPATA5</i> gene are associated with epilepsy, hearing loss and mental retardation syndrome (EHLMRS). While <i>SPATA5</i> is ubiquitously expressed and is attributed a role within mitochondrial morphogenesis during spermatogenesis, there is only limited knowledge about the associated muscular and molecular pathology. This study reports on a comprehensive workup of muscular pathology, including proteomic profiling and microscopic studies, performed on an 8-year-old girl with typical clinical presentation of EHLMRS, where exome analysis revealed two clinically relevant, compound-heterozygous variants in <i>SPATA5</i>. Proteomic profiling of a quadriceps biopsy showed the dysregulation of 82 proteins, out of which 15 were localized in the mitochondrion, while 19 were associ2021-01-01T00:00:00Z2021 Jul2026-04-08T08:14:31.459Z2022-02-11T05:54:59.793ZS-EPMC83459563436060110.3390/ijms22157835