CDKL1 and Marfan syndrome: Gene panel sequencing identified 2 further CDKL1 variants in a cohort of 320 consecutive, unrelated individuals with TAAD spectrum or connective tissue disorders: The heterozygous missense variant CDKL1 c.617C>T p.(Ser206Leu) was detected in patient P4 (family 2, Figure 1B), a woman with Marfan syndrome–like features including positive wrist and thumb signs, dural ectasia, pectus excavatum, and joint hyperflexibility (knees and elbows) as first reported at the age of 37 years and confirmed in her most recent clinical examination at the age of 51 years (Table 1).