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

Iacovazzo, Donato; Caswell, Richard; Bunce, Benjamin; Jose, Sian; Yuan, Bo; Hernandez-Ramirez, Laura; Kapur, Sonal; Caimari, Francisca; Evanson, Jane; Ferrau, Francesco; Dang, Mary; Gabrovska, Plamena; Larkin, Sarah; Ansorge, Olaf; Rodd, Celia; Vance, Mary; Ramirez-Renteria, Claudia; Mercado, Moises; Goldstone, Anthony; Buchfelder, Michael; Burren, Christine; Gurlek, ÖMER; Dutta, Pinaki; Choong, Catherine; Cheetham, Timothy; Trivellin, Giampaolo; Stratakis, Constantine; Lopes, Maria-Beatriz; Grossman, Ashley; Trouillas, Jacqueline; Lupski, James; Ellard, Sian; Sampson, Julian; Roncaroli, Federico; Korbonits, Marta

doi:10.1186/s40478-016-0328-1

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-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 4
Basım Tarihi: 2016
Doi Numarası: 10.1186/s40478-016-0328-1
Dergi Adı: ACTA NEUROPATHOLOGICA COMMUNICATIONS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Hacettepe Üniversitesi Adresli: Evet

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.