Publications by authors named "M Grimmel"
Neurodevelopmental disorders are major indications for genetic referral and have been linked to more than 1500 loci including genes encoding transcriptional regulators. The dysfunction of transcription factors often results in characteristic syndromic presentations; however, at least half of these patients lack a genetic diagnosis. The implementation of machine learning approaches has the potential to aid in the identification of new disease genes and delineate associated phenotypes.
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- The translation elongation factor eEF1A2 is crucial for binding aminoacyl-tRNA to the ribosome, and since 2012, 21 harmful variants have been linked to severe neurodevelopmental disorders, including epilepsy and intellectual disabilities.
- A recent study gathered 26 patients with EEF1A2 variants, revealing a milder clinical profile than previously reported, with higher walking and language skills and lower rates of intellectual disability and epilepsy.
- The research identified 8 new EEF1A2 variants and suggests that severe and moderate phenotypes are linked to specific protein regions affecting GTP exchange, while milder variants may affect secondary functions, contributing to a broader understanding
Mitchell syndrome is a very rare genetic disorder due to a specific de novo gain-of-function variant in acyl-CoA oxidase 1 (). So far, only five patients with this disease have been described worldwide. We present here two additional unrelated German patients found to carry the same heterozygous N237S variant through exome sequencing (ES).
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