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3 results on '"SLC25A22 gene"'

1. De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype.

Author

Nicotera, Antonio Gennaro, Dicanio, Daniela, Pironti, Erica, Bonsignore, Maria, Cafeo, Anna, Efthymiou, Stephanie, Mondello, Patrizia, Salpietro, Vincenzo, Houlden, Henry, and Di Rosa, Gabriella

Subjects
*PHENOTYPES, *GENETIC mutation, *ELECTROENCEPHALOGRAPHY, *MISSENSE mutation, *MITOCHONDRIAL membranes, *DEVELOPMENTAL delay, *EXOMES, *MITOCHONDRIA
Abstract

The SLC25A22 (Solute Carrier Family 25, Member 22) gene encodes for a mitochondrial glutamate/H+ symporter and is involved in the mitochondrial transport of metabolites across the mitochondrial membrane. We hereby report a 12-year-old girl presenting with early-onset epileptic encephalopathy, hypotonia, and global developmental delay. Whole exome sequencing identified a novel homozygous missense mutation in SLC25A22 gene (c.97A>G; p.Lys33Glu), as the likely cause of the disease. The phenotype of our patient and EEG recordings do not completely overlap with the phenotypes previously described, leading to a new and more complex form of disease associated with SLC25A22 variants, characterized by dyskinetic movements and oculogyric crisis. [ABSTRACT FROM AUTHOR]

Published
2021
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2. De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype

Author

Vincenzo Salpietro, Stephanie Efthymiou, Patrizia Mondello, Antonio Gennaro Nicotera, Anna Cafeo, Gabriella Di Rosa, Henry Houlden, Daniela Dicanio, Erica Pironti, and Maria Bonsignore

Subjects
0301 basic medicine, Genetics, Oculogyric crisis, Dyskinetic movements, SLC25A22 gene, epileptic encephalopathy, glutamate, oculogyric crisis, Biology, medicine.disease, Hypotonia, 3. Good health, Solute carrier family, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Symporter, medicine, Missense mutation, medicine.symptom, Inner mitochondrial membrane, 030217 neurology & neurosurgery, Mitochondrial transport, Exome sequencing
Abstract

The SLC25A22 (Solute Carrier Family 25, Member 22) gene encodes for a mitochondrial glutamate/H+ symporter and is involved in the mitochondrial transport of metabolites across the mitochondrial membrane. We hereby report a 12-year-old girl presenting with early-onset epileptic encephalopathy, hypotonia, and global developmental delay. Whole exome sequencing identified a novel homozygous missense mutation in SLC25A22 gene (c.97A>G; p.Lys33Glu), as the likely cause of the disease. The phenotype of our patient and EEG recordings do not completely overlap with the phenotypes previously described, leading to a new and more complex form of disease associated with SLC25A22 variants, characterized by dyskinetic movements and oculogyric crisis.

Published
2021

3. The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.

Author

Guerrini R., Marini C., Zhang Y.-H., Mefford H.C., Kurian M.A., Poduri A.H., Scheffer I.E., Burgess R., Wang S., McTague A., Boysen K.E., Yang X., Zeng Q., Myers K.A., Rochtus A., Trivisano M., Gill D., Sadleir L.G., Specchio N., Guerrini R., Marini C., Zhang Y.-H., Mefford H.C., Kurian M.A., Poduri A.H., Scheffer I.E., Burgess R., Wang S., McTague A., Boysen K.E., Yang X., Zeng Q., Myers K.A., Rochtus A., Trivisano M., Gill D., Sadleir L.G., and Specchio N.

Abstract

Objective: Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encephalopathies. We delineate the genetic causes and genotype-phenotype correlations of a large EIMFS cohort. Method(s): Phenotypic and molecular data were analyzed on patients recruited through an international collaborative study. Result(s): We ascertained 135 patients from 128 unrelated families. Ninety-three of 135 (69%) had causative variants (42/55 previously reported) across 23 genes, including 9 novel EIMFS genes: de novo dominant GABRA1, GABRB1, ATP1A3; X-linked CDKL5, PIGA; and recessive ITPA, AIMP1, KARS, WWOX. The most frequently implicated genes were KCNT1 (36/135, 27%) and SCN2A (10/135, 7%). Mosaicism occurred in 2 probands (SCN2A, GABRB3) and 3 unaffected mothers (KCNT1). Median age at seizure onset was 4 weeks, with earlier onset in the SCN2A, KCNQ2, and BRAT1 groups. Epileptic spasms occurred in 22% patients. A total of 127 patients had severe to profound developmental impairment. All but 7 patients had ongoing seizures. Additional features included microcephaly, movement disorders, spasticity, and scoliosis. Mortality occurred in 33% at median age 2 years 7 months. Interpretation(s): We identified a genetic cause in 69% of patients with EIMFS. We highlight the genetic heterogeneity of EIMFS with 9 newly implicated genes, bringing the total number to 33. Mosaicism was observed in probands and parents, carrying critical implications for recurrence risk. EIMFS pathophysiology involves diverse molecular processes from gene and protein regulation to ion channel function and solute trafficking. ANN NEUROL 2019;86:821-831.Copyright © 2019 American Neurological Association

Published
2019

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