Single gene insufficient to account for dup15q, Angelman traits

November 18, 2022


Spectrum News:

Multiple genes shape the traits of the autism-linked conditions dup15q syndrome and Angelman syndrome, according to two new unpublished studies. The work was presented Tuesday at Neuroscience 2022 in San Diego, California.

Angelman syndrome is caused by deletions or mutations in the maternal copy of the 15q11-13 chromosomal region, whereas dup15q syndrome stems from duplications of it. Although traits differ for the two conditions — dup15q more frequently results in autism, for example — both syndromes are linked to an increased likelihood of seizures and developmental delay.

Researchers have long suspected that a single gene in the region, UBE3A, drives Angelman syndrome, and it has been considered an important target fo