The genetic, clinical and histopathological features of XLAG patients were studied in detail. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. We studied 153 patients (58 females and 95 males) with pituitary gigantism. ![]() 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. Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic studyĪcta Neuropathologica Communications volume 4, Article number: 56 ( 2016)
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