Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective

Tonne-Kalscheuer syndrome (TOKAS) is a rare disorder with intellectual disability and multiple congenital abnormalities. TOKAS is caused by pathogenic variants in the RLIM gene located on the X-chromosome. Men are affected, while carrier women are usually asymptomatic. Of the 41 patients reported with TOKAS, only 7 antenatal cases were described. We present here 11 antenatal cases, describe the clinical features that made TOKAS recognizable, report novel symptoms and variants, and highlight a recurrent pathogenic variant responsible for most fetal TOKAS cases. This study will facilitate antenatal diagnosis of TOKAS and will enable these families to benefit from appropriate genetic counselling. (Dr Silvestre CUINAT, https://jmg.bmj.com/content/early/2024/06/07/jmg-2024-109854 )

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