October 11, 2025BMC PediatricsOpen Access

A novel missense variant at the site of interaction between RLIM and E2 ubiquitin-conjugating enzymes causes Tønne-Kalscheuer syndrome

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Novel missense variant influences interactions with E2 ubiquitin-conjugating enzymes in TOKAS, suggesting pathogenicity.

A novel missense variant in the RLIM gene is linked to Tønne-Kalscheuer syndrome, impacting protein interactions.
Whole-exome sequencing identified the variant NM_016120.4:c.1721T > A, which correlates with intellectual disability and developmental delays.
Segregation analysis showed the mother carries the variant, highlighting potential implications for X chromosome inactivation patterns.
Computational and structural analysis suggests the variant may alter E3 ligase interactions, affecting ubiquitin-mediated protein regulation.

Siavrienė et al. (2025) studied this question.

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