Mutations in a gene called ADNP result in a distinct syndrome that includes autism, intellectual disability and problems with the gut, eyes, heart and brain, according to a new study1.

The results flesh out the clinical characteristics of one of the more common autism syndromes.

The researchers characterized the effects of mutations in this gene in 78 people. These individuals also have behavioral problems, distinctive facial features and low muscle tone.

“This is one of the first rare-disease studies that extensively describes a cohort of sufficient size,” says lead researcher Frank Kooy, professor of cognitive genetics at the University of Antwerp in Belgium. “We originally identified this as an autism gene, but if you look at the patients, there are actually so many more comorbidities.”

ADNP has many functions, including in the growth of neurons. It first turned up on a list of possible autism genes in 2012. Two years later, Kooy and others reported that 10 people with autism, identified through DNA repositories, carry mutations in the gene.

“Given that the syndrome was discovered and reported only in 2014, [the new work] represents an important step forward in understanding the clinical complexity of the syndrome,” says Silvia De Rubeis, assistant professor of psychiatry at the Icahn School of Medicine at Mount Sinai in New York, who was not involved in the study.

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