While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. In one subject, the duplicated region only contained GPR101, but not the other three genes found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. ![]() We identified 12 patients (10 females and 2 males 7.8 %) with XLAG. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants. 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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