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Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

European Journal of Human Genetics volume 32, pages 253–256 (2024)Cite this article

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Johansson et al. recently described the genetic diagnosis of a large family with Gusatvson syndrome. The pathogenic variant in this family is an in-frame deletion in RBMX, also known as HNRNPG. This work expands the definition of the HNRNP-Related Neurodevelopmental Disorders and provides insights into analyzing the related conditions.

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Fig. 1: Correlations between phenotypic features of the HNRNP-RNDDs.
Fig. 2: HNRNP gene expression developing fetal cortex tissues.

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  1. Department of Laboratories, Seattle Children’s Hospital, Seattle, WA, USA

    Madelyn A. Gillentine

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  1. Madelyn A. Gillentine
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MAG provided the conception, analysis, and writing of this manuscript.

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Correspondence to Madelyn A. Gillentine.

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Gillentine, M.A. Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions. Eur J Hum Genet 32, 253–256 (2024). https://doi.org/10.1038/s41431-023-01498-3

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