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

Overview of attention for article published in Acta Neuropathologica Communications, June 2016
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  • Above-average Attention Score compared to outputs of the same age (51st percentile)
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Title
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
Published in
Acta Neuropathologica Communications, June 2016
DOI 10.1186/s40478-016-0328-1
Pubmed ID
Authors

Donato Iacovazzo, Richard Caswell, Benjamin Bunce, Sian Jose, Bo Yuan, Laura C. Hernández-Ramírez, Sonal Kapur, Francisca Caimari, Jane Evanson, Francesco Ferraù, Mary N. Dang, Plamena Gabrovska, Sarah J. Larkin, Olaf Ansorge, Celia Rodd, Mary L. Vance, Claudia Ramírez-Renteria, Moisés Mercado, Anthony P. Goldstone, Michael Buchfelder, Christine P. Burren, Alper Gurlek, Pinaki Dutta, Catherine S. Choong, Timothy Cheetham, Giampaolo Trivellin, Constantine A. Stratakis, Maria-Beatriz Lopes, Ashley B. Grossman, Jacqueline Trouillas, James R. Lupski, Sian Ellard, Julian R. Sampson, Federico Roncaroli, Márta Korbonits

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.We studied 153 patients (58 females and 95 males) with pituitary gigantism. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. The genetic, clinical and histopathological features of XLAG patients were studied in detail. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants.We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes in found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. Nine patients had pituitary adenomas, while three had hyperplasia. The comparison of the features of XLAG, AIP-positive and GPR101&AIP-negative patients revealed significant differences in sex distribution, age at onset, height, prolactin co-secretion and histological features. The pathological features of XLAG-related adenomas were remarkably similar. These tumors had a sinusoidal and lobular architecture. Sparsely and densely granulated somatotrophs were admixed with lactotrophs; follicle-like structures and calcifications were commonly observed. Patients with sporadic of familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases.In conclusion, XLAG can result from germline or somatic duplication of GPR101. Duplication of GPR101 alone is sufficient for the development of XLAG, implicating it as the causative gene within the Xq26.3 region. The pathological features of XLAG-associated pituitary adenomas are typical and, together with the clinical phenotype, should prompt genetic testing.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 83 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 83 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 12 14%
Researcher 12 14%
Other 9 11%
Student > Bachelor 8 10%
Student > Master 8 10%
Other 16 19%
Unknown 18 22%
Readers by discipline Count As %
Medicine and Dentistry 29 35%
Biochemistry, Genetics and Molecular Biology 11 13%
Agricultural and Biological Sciences 3 4%
Pharmacology, Toxicology and Pharmaceutical Science 3 4%
Nursing and Health Professions 2 2%
Other 15 18%
Unknown 20 24%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 03 June 2016.
All research outputs
#3,649,066
of 7,849,747 outputs
Outputs from Acta Neuropathologica Communications
#223
of 364 outputs
Outputs of similar age
#122,305
of 269,380 outputs
Outputs of similar age from Acta Neuropathologica Communications
#24
of 35 outputs
Altmetric has tracked 7,849,747 research outputs across all sources so far. This one has received more attention than most of these and is in the 51st percentile.
So far Altmetric has tracked 364 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.2. This one is in the 35th percentile – i.e., 35% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 269,380 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 51% of its contemporaries.
We're also able to compare this research output to 35 others from the same source and published within six weeks on either side of this one. This one is in the 31st percentile – i.e., 31% of its contemporaries scored the same or lower than it.