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. , ...Daha Fazla

ACTA NEUROPATHOLOGICA COMMUNICATIONS, cilt.4, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 4
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1186/s40478-016-0328-1
  • Dergi Adı: ACTA NEUROPATHOLOGICA COMMUNICATIONS

Özet

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.