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

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

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

• Publication Type: Article / Article
• Volume: 4
• Publication Date: 2016
• Doi Number: 10.1186/s40478-016-0328-1
• Journal Name: ACTA NEUROPATHOLOGICA COMMUNICATIONS
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Hacettepe University Affiliated: Yes

Abstract

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.