Edition of 31 May 2019

A study published in the European Journal of Human Genetics identified 24 individuals with a de novo variant in FBXO11, encoding a protein part of a multi-protein E3 ubiquitin-ligase complex. All individuals presented borderline to severe intellectual disability and behavioural problems (autism spectrum disorder, attention-deficit/hyperactivity disorder, anxiety, aggression), and common facial features including a thin upper lip and a broad prominent space between the paramedian peaks of the upper lip. Other features were hypotonia and hyperlaxity of the joints.

Researchers identified five patients, including two sib pairs, with mutations in INTS1, which encodes a component of the integrator complex that aids to catalyse endonucleolytic cleavage of nascent snRNAs. The patients presented absent or severely limited speech, an abnormal gait, hypotonia and cataracts. The study also reports additional clinical data on three previously described individuals with variants in INTS1 that shared cognitive delays, cataracts, and dysmorphic features. The results were published in European Journal of Human Genetics.