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Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder. | LitMetric

AI Article Synopsis

  • Researchers identified a new autosomal recessive neurodevelopmental disorder linked to biallelic variants in the TMEM222 gene in 17 individuals from nine families.
  • The study used exome sequencing and gene matching tools to detect these pathogenic variants, along with RT-qPCR to analyze gene expression.
  • Findings indicate that TMEM222 is significantly expressed in the brain and plays a role in brain development and function, suggesting it contributes to the disorder's symptoms.

Article Abstract

Purpose: To elucidate the novel molecular cause in families with a new autosomal recessive neurodevelopmental disorder.

Methods: A combination of exome sequencing and gene matching tools was used to identify pathogenic variants in 17 individuals. Quantitative reverse transcription polymerase chain reaction (RT-qPCR) and subcellular localization studies were used to characterize gene expression profile and localization.

Results: Biallelic variants in the TMEM222 gene were identified in 17 individuals from nine unrelated families, presenting with intellectual disability and variable other features, such as aggressive behavior, shy character, body tremors, decreased muscle mass in the lower extremities, and mild hypotonia. We found relatively high TMEM222 expression levels in the human brain, especially in the parietal and occipital cortex. Additionally, subcellular localization analysis in human neurons derived from induced pluripotent stem cells (iPSCs) revealed that TMEM222 localizes to early endosomes in the synapses of mature iPSC-derived neurons.

Conclusion: Our findings support a role for TMEM222 in brain development and function and adds variants in the gene TMEM222 as a novel underlying cause of an autosomal recessive neurodevelopmental disorder.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8725574PMC
http://dx.doi.org/10.1038/s41436-021-01133-wDOI Listing

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