ArticleHuman genetics2013
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.
Article in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 29 citations in OpenAlex.
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- Bioenergetic signatures of neurodevelopmental regression.Frontiers in physiology · 2024Article
- DNA-PKcs and ATM modulate mitochondrial ADP-ATP exchange as an oxidative stress checkpoint mechanism.The EMBO journal · 2023Article
- Dynamin-like Protein 1 (DNML1) as a Molecular Target for Antibody-Based Immunotherapy to Treat Glaucoma.International journal of molecular sciences · 2022Article
- Whole-Genome Sequencing IdentifiedFrontiers in medicine · 2022Article
- Mitochondrial morphology is associated with respiratory chain uncoupling in autism spectrum disorder.Translational psychiatry · 2021Article
- A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract.European journal of human genetics : EJHG · 2021Article
- Mitochondria May Mediate Prenatal Environmental Influences in Autism Spectrum Disorder.Journal of personalized medicine · 2021Review
- Dysregulated expression of androgen metabolism genes and genetic analysis in hypospadias.Molecular genetics & genomic medicine · 2020Article
- Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.Molecular psychiatry · 2019Article
- Cardiomyopathy-associated mutation in the ADP/ATP carrier reveals translation-dependent regulation of cytochrome c oxidase activity.Molecular biology of the cell · 2018Article
- Warning SINEs: Alu elements, evolution of the human brain, and the spectrum of neurological disease.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2018Review
- Human adenine nucleotide translocases physically and functionally interact with respirasomes.Molecular biology of the cell · 2017Article
- X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.Molecular psychiatry · 2016Article
- ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics.Molecular genetics and metabolism reports · 2015Article
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20 authors at 8 institutions in 4 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Loss-of-function mutations in several different neuronal pathways have been related to intellectual disability (ID). Such mutations often are found on the X chromosome in males since they result in functional null alleles. So far, microdeletions at Xq24 reported in males always have been associated with a syndromic form of ID due to the loss of UBE2A. Here, we report on overlapping microdeletions at Xq24 that do not include UBE2A or affect its expression, in patients with non-syndromic ID plus some additional features from three unrelated families. The smallest region of overlap, confirmed by junction sequencing, harbors two members of the mitochondrial solute carrier family 25, SLC25A5 and SLC25A43. However, identification of an intragenic microdeletion including SLC25A43 but not SLC25A5 in a healthy boy excluded a role for SLC25A43 in cognition. Therefore, our findings point to SLC25A5 as a novel gene for non-syndromic ID. This highly conserved gene is expressed ubiquitously with high levels in cortex and hippocampus, and a presumed role in mitochondrial exchange of ADP/ATP. Our data indicate that SLC25A5 is involved in memory formation or establishment, which could add mitochondrial processes to the wide array of pathways that regulate normal cognitive functions.
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