Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

Iacovazzo D., Caswell R., Bunce B., Jose S., Yuan B., Hernandez-Ramirez L. C., ...More

ACTA NEUROPATHOLOGICA COMMUNICATIONS, vol.4, 2016 (SCI-Expanded) identifier identifier identifier


Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly.