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

Identifieur interne : 001D66 ( PubMed/Checkpoint ); précédent : 001D65; suivant : 001D67

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

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

Source :

RBID : pubmed:27245663

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English descriptors

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.

DOI: 10.1186/s40478-016-0328-1
PubMed: 27245663


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pubmed:27245663

Le document en format XML

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<nlm:affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</nlm:affiliation>
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<name sortKey="Bunce, Benjamin" sort="Bunce, Benjamin" uniqKey="Bunce B" first="Benjamin" last="Bunce">Benjamin Bunce</name>
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<name sortKey="Jose, Sian" sort="Jose, Sian" uniqKey="Jose S" first="Sian" last="Jose">Sian Jose</name>
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<name sortKey="Yuan, Bo" sort="Yuan, Bo" uniqKey="Yuan B" first="Bo" last="Yuan">Bo Yuan</name>
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<name sortKey="Hernandez Ramirez, Laura C" sort="Hernandez Ramirez, Laura C" uniqKey="Hernandez Ramirez L" first="Laura C" last="Hernández-Ramírez">Laura C. Hernández-Ramírez</name>
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<name sortKey="Kapur, Sonal" sort="Kapur, Sonal" uniqKey="Kapur S" first="Sonal" last="Kapur">Sonal Kapur</name>
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<nlm:affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</nlm:affiliation>
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<name sortKey="Caimari, Francisca" sort="Caimari, Francisca" uniqKey="Caimari F" first="Francisca" last="Caimari">Francisca Caimari</name>
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<nlm:affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ</wicri:regionArea>
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<name sortKey="Evanson, Jane" sort="Evanson, Jane" uniqKey="Evanson J" first="Jane" last="Evanson">Jane Evanson</name>
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<nlm:affiliation>Department of Radiology, Barts Health NHS Trust, London, EC1A 7BE, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
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<name sortKey="Ferrau, Francesco" sort="Ferrau, Francesco" uniqKey="Ferrau F" first="Francesco" last="Ferraù">Francesco Ferraù</name>
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<name sortKey="Dang, Mary N" sort="Dang, Mary N" uniqKey="Dang M" first="Mary N" last="Dang">Mary N. Dang</name>
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<nlm:affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ</wicri:regionArea>
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<name sortKey="Gabrovska, Plamena" sort="Gabrovska, Plamena" uniqKey="Gabrovska P" first="Plamena" last="Gabrovska">Plamena Gabrovska</name>
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<nlm:affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ</wicri:regionArea>
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<name sortKey="Larkin, Sarah J" sort="Larkin, Sarah J" uniqKey="Larkin S" first="Sarah J" last="Larkin">Sarah J. Larkin</name>
<affiliation wicri:level="4">
<nlm:affiliation>Department of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX1 2JD, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX1 2JD</wicri:regionArea>
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<settlement type="city">Oxford</settlement>
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<name sortKey="Ansorge, Olaf" sort="Ansorge, Olaf" uniqKey="Ansorge O" first="Olaf" last="Ansorge">Olaf Ansorge</name>
<affiliation wicri:level="4">
<nlm:affiliation>Department of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX1 2JD, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX1 2JD</wicri:regionArea>
<orgName type="university">Université d'Oxford</orgName>
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<settlement type="city">Oxford</settlement>
<region type="nation">Angleterre</region>
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<name sortKey="Rodd, Celia" sort="Rodd, Celia" uniqKey="Rodd C" first="Celia" last="Rodd">Celia Rodd</name>
<affiliation wicri:level="4">
<nlm:affiliation>Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, R3T 2 N2, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, R3T 2 N2</wicri:regionArea>
<orgName type="university">Université du Manitoba</orgName>
<placeName>
<settlement type="city">Winnipeg</settlement>
<region type="state">Manitoba</region>
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<author>
<name sortKey="Vance, Mary L" sort="Vance, Mary L" uniqKey="Vance M" first="Mary L" last="Vance">Mary L. Vance</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Endocrinology, University of Virginia, Charlottesville, 22908, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Endocrinology, University of Virginia, Charlottesville, 22908</wicri:regionArea>
<wicri:noRegion>22908</wicri:noRegion>
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<author>
<name sortKey="Ramirez Renteria, Claudia" sort="Ramirez Renteria, Claudia" uniqKey="Ramirez Renteria C" first="Claudia" last="Ramírez-Renteria">Claudia Ramírez-Renteria</name>
<affiliation wicri:level="1">
<nlm:affiliation>Endocrinology Service and Experimental Endocrinology Unit, Hospital de Especialidades Centro Médico Nacional Siglo XXI, IMSS, UNAM, Mexico City, 06720, Mexico.</nlm:affiliation>
<country xml:lang="fr">Mexique</country>
<wicri:regionArea>Endocrinology Service and Experimental Endocrinology Unit, Hospital de Especialidades Centro Médico Nacional Siglo XXI, IMSS, UNAM, Mexico City, 06720</wicri:regionArea>
<wicri:noRegion>06720</wicri:noRegion>
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<author>
<name sortKey="Mercado, Moises" sort="Mercado, Moises" uniqKey="Mercado M" first="Moisés" last="Mercado">Moisés Mercado</name>
<affiliation wicri:level="1">
<nlm:affiliation>Endocrinology Service and Experimental Endocrinology Unit, Hospital de Especialidades Centro Médico Nacional Siglo XXI, IMSS, UNAM, Mexico City, 06720, Mexico.</nlm:affiliation>
<country xml:lang="fr">Mexique</country>
<wicri:regionArea>Endocrinology Service and Experimental Endocrinology Unit, Hospital de Especialidades Centro Médico Nacional Siglo XXI, IMSS, UNAM, Mexico City, 06720</wicri:regionArea>
<wicri:noRegion>06720</wicri:noRegion>
</affiliation>
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<author>
<name sortKey="Goldstone, Anthony P" sort="Goldstone, Anthony P" uniqKey="Goldstone A" first="Anthony P" last="Goldstone">Anthony P. Goldstone</name>
<affiliation wicri:level="3">
<nlm:affiliation>Imperial Centre for Endocrinology, Imperial College Healthcare NHS Trust, W12 0HS, London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Imperial Centre for Endocrinology, Imperial College Healthcare NHS Trust, W12 0HS, London</wicri:regionArea>
<placeName>
<settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
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<author>
<name sortKey="Buchfelder, Michael" sort="Buchfelder, Michael" uniqKey="Buchfelder M" first="Michael" last="Buchfelder">Michael Buchfelder</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Neurosurgery, University of Duisburg-Essen, Essen, 45141, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurosurgery, University of Duisburg-Essen, Essen, 45141</wicri:regionArea>
<wicri:noRegion>45141</wicri:noRegion>
<wicri:noRegion>45141</wicri:noRegion>
<wicri:noRegion>45141</wicri:noRegion>
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<name sortKey="Burren, Christine P" sort="Burren, Christine P" uniqKey="Burren C" first="Christine P" last="Burren">Christine P. Burren</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Paediatric Endocrinology, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8HW, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Paediatric Endocrinology, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8HW</wicri:regionArea>
<wicri:noRegion>BS2 8HW</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Gurlek, Alper" sort="Gurlek, Alper" uniqKey="Gurlek A" first="Alper" last="Gurlek">Alper Gurlek</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Endocrinology and Metabolism, Faculty of Medicine, Hacettepe University, Ankara, 06100, Turkey.</nlm:affiliation>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Endocrinology and Metabolism, Faculty of Medicine, Hacettepe University, Ankara, 06100</wicri:regionArea>
<wicri:noRegion>06100</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Dutta, Pinaki" sort="Dutta, Pinaki" uniqKey="Dutta P" first="Pinaki" last="Dutta">Pinaki Dutta</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Endocrinology, PGIMER, Chandigarh, 160012, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Endocrinology, PGIMER, Chandigarh, 160012</wicri:regionArea>
<wicri:noRegion>160012</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Choong, Catherine S" sort="Choong, Catherine S" uniqKey="Choong C" first="Catherine S" last="Choong">Catherine S. Choong</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Pediatric Endocrinology, Princess Margaret Hospital for Children, Subiaco, 6008, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Pediatric Endocrinology, Princess Margaret Hospital for Children, Subiaco, 6008</wicri:regionArea>
<wicri:noRegion>6008</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Cheetham, Timothy" sort="Cheetham, Timothy" uniqKey="Cheetham T" first="Timothy" last="Cheetham">Timothy Cheetham</name>
<affiliation wicri:level="1">
<nlm:affiliation>Newcastle University c/o Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle-upon-Tyne, NE1 4LP, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Newcastle University c/o Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle-upon-Tyne, NE1 4LP</wicri:regionArea>
<wicri:noRegion>NE1 4LP</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Trivellin, Giampaolo" sort="Trivellin, Giampaolo" uniqKey="Trivellin G" first="Giampaolo" last="Trivellin">Giampaolo Trivellin</name>
<affiliation wicri:level="1">
<nlm:affiliation>Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, 20892, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, 20892</wicri:regionArea>
<wicri:noRegion>20892</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Stratakis, Constantine A" sort="Stratakis, Constantine A" uniqKey="Stratakis C" first="Constantine A" last="Stratakis">Constantine A. Stratakis</name>
<affiliation wicri:level="1">
<nlm:affiliation>Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, 20892, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, 20892</wicri:regionArea>
<wicri:noRegion>20892</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Lopes, Maria Beatriz" sort="Lopes, Maria Beatriz" uniqKey="Lopes M" first="Maria-Beatriz" last="Lopes">Maria-Beatriz Lopes</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Pathology, University of Virginia, Charlottesville, 22908, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pathology, University of Virginia, Charlottesville, 22908</wicri:regionArea>
<wicri:noRegion>22908</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Grossman, Ashley B" sort="Grossman, Ashley B" uniqKey="Grossman A" first="Ashley B" last="Grossman">Ashley B. Grossman</name>
<affiliation wicri:level="4">
<nlm:affiliation>Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, OX1 2JD, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, OX1 2JD</wicri:regionArea>
<orgName type="university">Université d'Oxford</orgName>
<placeName>
<settlement type="city">Oxford</settlement>
<region type="nation">Angleterre</region>
<region type="région" nuts="1">Oxfordshire</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Trouillas, Jacqueline" sort="Trouillas, Jacqueline" uniqKey="Trouillas J" first="Jacqueline" last="Trouillas">Jacqueline Trouillas</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Pathology, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, 69500, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Pathology, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, 69500</wicri:regionArea>
<wicri:noRegion>69500</wicri:noRegion>
<wicri:noRegion>69500</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Lupski, James R" sort="Lupski, James R" uniqKey="Lupski J" first="James R" last="Lupski">James R. Lupski</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030</wicri:regionArea>
<wicri:noRegion>77030</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Ellard, Sian" sort="Ellard, Sian" uniqKey="Ellard S" first="Sian" last="Ellard">Sian Ellard</name>
<affiliation wicri:level="1">
<nlm:affiliation>Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW</wicri:regionArea>
<wicri:noRegion>EX2 5DW</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Sampson, Julian R" sort="Sampson, Julian R" uniqKey="Sampson J" first="Julian R" last="Sampson">Julian R. Sampson</name>
<affiliation wicri:level="1">
<nlm:affiliation>Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
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<title xml:lang="en">Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.</title>
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<country xml:lang="fr">Royaume-Uni</country>
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<nlm:affiliation>Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
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<nlm:affiliation>Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
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<name sortKey="Hernandez Ramirez, Laura C" sort="Hernandez Ramirez, Laura C" uniqKey="Hernandez Ramirez L" first="Laura C" last="Hernández-Ramírez">Laura C. Hernández-Ramírez</name>
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<nlm:affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ</wicri:regionArea>
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<nlm:affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ</wicri:regionArea>
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<name sortKey="Evanson, Jane" sort="Evanson, Jane" uniqKey="Evanson J" first="Jane" last="Evanson">Jane Evanson</name>
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<nlm:affiliation>Department of Radiology, Barts Health NHS Trust, London, EC1A 7BE, UK.</nlm:affiliation>
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<wicri:regionArea>Department of Radiology, Barts Health NHS Trust, London, EC1A 7BE</wicri:regionArea>
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<author>
<name sortKey="Ferrau, Francesco" sort="Ferrau, Francesco" uniqKey="Ferrau F" first="Francesco" last="Ferraù">Francesco Ferraù</name>
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<nlm:affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ</wicri:regionArea>
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<name sortKey="Dang, Mary N" sort="Dang, Mary N" uniqKey="Dang M" first="Mary N" last="Dang">Mary N. Dang</name>
<affiliation wicri:level="1">
<nlm:affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ</wicri:regionArea>
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<name sortKey="Gabrovska, Plamena" sort="Gabrovska, Plamena" uniqKey="Gabrovska P" first="Plamena" last="Gabrovska">Plamena Gabrovska</name>
<affiliation wicri:level="1">
<nlm:affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ</wicri:regionArea>
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<name sortKey="Larkin, Sarah J" sort="Larkin, Sarah J" uniqKey="Larkin S" first="Sarah J" last="Larkin">Sarah J. Larkin</name>
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<nlm:affiliation>Department of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX1 2JD, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX1 2JD</wicri:regionArea>
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<nlm:affiliation>Department of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX1 2JD, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX1 2JD</wicri:regionArea>
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<settlement type="city">Oxford</settlement>
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<name sortKey="Rodd, Celia" sort="Rodd, Celia" uniqKey="Rodd C" first="Celia" last="Rodd">Celia Rodd</name>
<affiliation wicri:level="4">
<nlm:affiliation>Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, R3T 2 N2, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, R3T 2 N2</wicri:regionArea>
<orgName type="university">Université du Manitoba</orgName>
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<settlement type="city">Winnipeg</settlement>
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<name sortKey="Vance, Mary L" sort="Vance, Mary L" uniqKey="Vance M" first="Mary L" last="Vance">Mary L. Vance</name>
<affiliation wicri:level="1">
<nlm:affiliation>Department of Endocrinology, University of Virginia, Charlottesville, 22908, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Endocrinology, University of Virginia, Charlottesville, 22908</wicri:regionArea>
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<name sortKey="Ramirez Renteria, Claudia" sort="Ramirez Renteria, Claudia" uniqKey="Ramirez Renteria C" first="Claudia" last="Ramírez-Renteria">Claudia Ramírez-Renteria</name>
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<nlm:affiliation>Endocrinology Service and Experimental Endocrinology Unit, Hospital de Especialidades Centro Médico Nacional Siglo XXI, IMSS, UNAM, Mexico City, 06720, Mexico.</nlm:affiliation>
<country xml:lang="fr">Mexique</country>
<wicri:regionArea>Endocrinology Service and Experimental Endocrinology Unit, Hospital de Especialidades Centro Médico Nacional Siglo XXI, IMSS, UNAM, Mexico City, 06720</wicri:regionArea>
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<name sortKey="Mercado, Moises" sort="Mercado, Moises" uniqKey="Mercado M" first="Moisés" last="Mercado">Moisés Mercado</name>
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<nlm:affiliation>Endocrinology Service and Experimental Endocrinology Unit, Hospital de Especialidades Centro Médico Nacional Siglo XXI, IMSS, UNAM, Mexico City, 06720, Mexico.</nlm:affiliation>
<country xml:lang="fr">Mexique</country>
<wicri:regionArea>Endocrinology Service and Experimental Endocrinology Unit, Hospital de Especialidades Centro Médico Nacional Siglo XXI, IMSS, UNAM, Mexico City, 06720</wicri:regionArea>
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<name sortKey="Goldstone, Anthony P" sort="Goldstone, Anthony P" uniqKey="Goldstone A" first="Anthony P" last="Goldstone">Anthony P. Goldstone</name>
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<nlm:affiliation>Imperial Centre for Endocrinology, Imperial College Healthcare NHS Trust, W12 0HS, London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Imperial Centre for Endocrinology, Imperial College Healthcare NHS Trust, W12 0HS, London</wicri:regionArea>
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<settlement type="city">Londres</settlement>
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<name sortKey="Buchfelder, Michael" sort="Buchfelder, Michael" uniqKey="Buchfelder M" first="Michael" last="Buchfelder">Michael Buchfelder</name>
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<nlm:affiliation>Department of Neurosurgery, University of Duisburg-Essen, Essen, 45141, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurosurgery, University of Duisburg-Essen, Essen, 45141</wicri:regionArea>
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<name sortKey="Burren, Christine P" sort="Burren, Christine P" uniqKey="Burren C" first="Christine P" last="Burren">Christine P. Burren</name>
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<nlm:affiliation>Department of Paediatric Endocrinology, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8HW, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Paediatric Endocrinology, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8HW</wicri:regionArea>
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<name sortKey="Gurlek, Alper" sort="Gurlek, Alper" uniqKey="Gurlek A" first="Alper" last="Gurlek">Alper Gurlek</name>
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<nlm:affiliation>Department of Endocrinology and Metabolism, Faculty of Medicine, Hacettepe University, Ankara, 06100, Turkey.</nlm:affiliation>
<country xml:lang="fr">Turquie</country>
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<name sortKey="Dutta, Pinaki" sort="Dutta, Pinaki" uniqKey="Dutta P" first="Pinaki" last="Dutta">Pinaki Dutta</name>
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<nlm:affiliation>Department of Endocrinology, PGIMER, Chandigarh, 160012, India.</nlm:affiliation>
<country xml:lang="fr">Inde</country>
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<author>
<name sortKey="Choong, Catherine S" sort="Choong, Catherine S" uniqKey="Choong C" first="Catherine S" last="Choong">Catherine S. Choong</name>
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<nlm:affiliation>Department of Pediatric Endocrinology, Princess Margaret Hospital for Children, Subiaco, 6008, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
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</author>
<author>
<name sortKey="Cheetham, Timothy" sort="Cheetham, Timothy" uniqKey="Cheetham T" first="Timothy" last="Cheetham">Timothy Cheetham</name>
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<nlm:affiliation>Newcastle University c/o Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle-upon-Tyne, NE1 4LP, UK.</nlm:affiliation>
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<wicri:regionArea>Newcastle University c/o Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle-upon-Tyne, NE1 4LP</wicri:regionArea>
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</author>
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<name sortKey="Trivellin, Giampaolo" sort="Trivellin, Giampaolo" uniqKey="Trivellin G" first="Giampaolo" last="Trivellin">Giampaolo Trivellin</name>
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<nlm:affiliation>Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, 20892, USA.</nlm:affiliation>
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<name sortKey="Stratakis, Constantine A" sort="Stratakis, Constantine A" uniqKey="Stratakis C" first="Constantine A" last="Stratakis">Constantine A. Stratakis</name>
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<nlm:affiliation>Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, 20892, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
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<name sortKey="Lopes, Maria Beatriz" sort="Lopes, Maria Beatriz" uniqKey="Lopes M" first="Maria-Beatriz" last="Lopes">Maria-Beatriz Lopes</name>
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<nlm:affiliation>Department of Pathology, University of Virginia, Charlottesville, 22908, USA.</nlm:affiliation>
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<name sortKey="Grossman, Ashley B" sort="Grossman, Ashley B" uniqKey="Grossman A" first="Ashley B" last="Grossman">Ashley B. Grossman</name>
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<nlm:affiliation>Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, OX1 2JD, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
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<name sortKey="Trouillas, Jacqueline" sort="Trouillas, Jacqueline" uniqKey="Trouillas J" first="Jacqueline" last="Trouillas">Jacqueline Trouillas</name>
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<nlm:affiliation>Department of Pathology, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, 69500, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
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<name sortKey="Lupski, James R" sort="Lupski, James R" uniqKey="Lupski J" first="James R" last="Lupski">James R. Lupski</name>
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<nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
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<name sortKey="Ellard, Sian" sort="Ellard, Sian" uniqKey="Ellard S" first="Sian" last="Ellard">Sian Ellard</name>
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<name sortKey="Sampson, Julian R" sort="Sampson, Julian R" uniqKey="Sampson J" first="Julian R" last="Sampson">Julian R. Sampson</name>
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<nlm:affiliation>Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK.</nlm:affiliation>
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<name sortKey="Roncaroli, Federico" sort="Roncaroli, Federico" uniqKey="Roncaroli F" first="Federico" last="Roncaroli">Federico Roncaroli</name>
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<name sortKey="Korbonits, Marta" sort="Korbonits, Marta" uniqKey="Korbonits M" first="Márta" last="Korbonits">Márta Korbonits</name>
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<nlm:affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK. m.korbonits@qmul.ac.uk.</nlm:affiliation>
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<title level="j">Acta neuropathologica communications</title>
<idno type="eISSN">2051-5960</idno>
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<date when="2016" type="published">2016</date>
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<term>Acromegaly (complications)</term>
<term>Acromegaly (genetics)</term>
<term>Acromegaly (pathology)</term>
<term>Adenoma (complications)</term>
<term>Adenoma (genetics)</term>
<term>Adenoma (pathology)</term>
<term>Adolescent</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Female</term>
<term>Gene Duplication</term>
<term>Germ-Line Mutation</term>
<term>Gigantism (complications)</term>
<term>Gigantism (genetics)</term>
<term>Gigantism (pathology)</term>
<term>Gigantism (therapy)</term>
<term>Humans</term>
<term>Infant</term>
<term>Intracellular Signaling Peptides and Proteins (genetics)</term>
<term>Male</term>
<term>Pituitary Neoplasms (complications)</term>
<term>Pituitary Neoplasms (genetics)</term>
<term>Pituitary Neoplasms (pathology)</term>
<term>Receptors, G-Protein-Coupled (genetics)</term>
<term>Treatment Outcome</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr">
<term>Acromégalie ()</term>
<term>Acromégalie (anatomopathologie)</term>
<term>Acromégalie (génétique)</term>
<term>Adolescent</term>
<term>Adénomes ()</term>
<term>Adénomes (anatomopathologie)</term>
<term>Adénomes (génétique)</term>
<term>Duplication de gène</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Gigantisme ()</term>
<term>Gigantisme (anatomopathologie)</term>
<term>Gigantisme (génétique)</term>
<term>Humains</term>
<term>Jeune adulte</term>
<term>Mutation germinale</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Protéines et peptides de signalisation intracellulaire (génétique)</term>
<term>Récepteurs couplés aux protéines G (génétique)</term>
<term>Résultat thérapeutique</term>
<term>Tumeurs de l'hypophyse ()</term>
<term>Tumeurs de l'hypophyse (anatomopathologie)</term>
<term>Tumeurs de l'hypophyse (génétique)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>Intracellular Signaling Peptides and Proteins</term>
<term>Receptors, G-Protein-Coupled</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr">
<term>Acromégalie</term>
<term>Adénomes</term>
<term>Gigantisme</term>
<term>Tumeurs de l'hypophyse</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en">
<term>Acromegaly</term>
<term>Adenoma</term>
<term>Gigantism</term>
<term>Pituitary Neoplasms</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Acromegaly</term>
<term>Adenoma</term>
<term>Gigantism</term>
<term>Pituitary Neoplasms</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr">
<term>Acromégalie</term>
<term>Adénomes</term>
<term>Gigantisme</term>
<term>Protéines et peptides de signalisation intracellulaire</term>
<term>Récepteurs couplés aux protéines G</term>
<term>Tumeurs de l'hypophyse</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en">
<term>Acromegaly</term>
<term>Adenoma</term>
<term>Gigantism</term>
<term>Pituitary Neoplasms</term>
</keywords>
<keywords scheme="MESH" qualifier="therapy" xml:lang="en">
<term>Gigantism</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Adolescent</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Female</term>
<term>Gene Duplication</term>
<term>Germ-Line Mutation</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Treatment Outcome</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr">
<term>Acromégalie</term>
<term>Adolescent</term>
<term>Adénomes</term>
<term>Duplication de gène</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Gigantisme</term>
<term>Humains</term>
<term>Jeune adulte</term>
<term>Mutation germinale</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Résultat thérapeutique</term>
<term>Tumeurs de l'hypophyse</term>
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<front>
<div type="abstract" xml:lang="en">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.</div>
</front>
</TEI>
<pubmed>
<MedlineCitation Status="MEDLINE" Owner="NLM">
<PMID Version="1">27245663</PMID>
<DateCreated>
<Year>2016</Year>
<Month>06</Month>
<Day>01</Day>
</DateCreated>
<DateCompleted>
<Year>2017</Year>
<Month>10</Month>
<Day>25</Day>
</DateCompleted>
<DateRevised>
<Year>2017</Year>
<Month>10</Month>
<Day>25</Day>
</DateRevised>
<Article PubModel="Electronic">
<Journal>
<ISSN IssnType="Electronic">2051-5960</ISSN>
<JournalIssue CitedMedium="Internet">
<Volume>4</Volume>
<Issue>1</Issue>
<PubDate>
<Year>2016</Year>
<Month>Jun</Month>
<Day>01</Day>
</PubDate>
</JournalIssue>
<Title>Acta neuropathologica communications</Title>
<ISOAbbreviation>Acta Neuropathol Commun</ISOAbbreviation>
</Journal>
<ArticleTitle>Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.</ArticleTitle>
<Pagination>
<MedlinePgn>56</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1186/s40478-016-0328-1</ELocationID>
<Abstract>
<AbstractText>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.</AbstractText>
</Abstract>
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<LastName>Iacovazzo</LastName>
<ForeName>Donato</ForeName>
<Initials>D</Initials>
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<Affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Caswell</LastName>
<ForeName>Richard</ForeName>
<Initials>R</Initials>
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<Affiliation>Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK.</Affiliation>
</AffiliationInfo>
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<LastName>Bunce</LastName>
<ForeName>Benjamin</ForeName>
<Initials>B</Initials>
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<Affiliation>Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Jose</LastName>
<ForeName>Sian</ForeName>
<Initials>S</Initials>
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<Affiliation>Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Yuan</LastName>
<ForeName>Bo</ForeName>
<Initials>B</Initials>
<AffiliationInfo>
<Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Hernández-Ramírez</LastName>
<ForeName>Laura C</ForeName>
<Initials>LC</Initials>
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<Affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, 20892, USA.</Affiliation>
</AffiliationInfo>
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<ForeName>Sonal</ForeName>
<Initials>S</Initials>
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<Affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</Affiliation>
</AffiliationInfo>
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<ForeName>Francisca</ForeName>
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<Affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</Affiliation>
</AffiliationInfo>
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<LastName>Evanson</LastName>
<ForeName>Jane</ForeName>
<Initials>J</Initials>
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<Affiliation>Department of Radiology, Barts Health NHS Trust, London, EC1A 7BE, UK.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Ferraù</LastName>
<ForeName>Francesco</ForeName>
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</AffiliationInfo>
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<LastName>Dang</LastName>
<ForeName>Mary N</ForeName>
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<Affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</Affiliation>
</AffiliationInfo>
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<LastName>Gabrovska</LastName>
<ForeName>Plamena</ForeName>
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<Affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Larkin</LastName>
<ForeName>Sarah J</ForeName>
<Initials>SJ</Initials>
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<Affiliation>Department of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX1 2JD, UK.</Affiliation>
</AffiliationInfo>
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<LastName>Ansorge</LastName>
<ForeName>Olaf</ForeName>
<Initials>O</Initials>
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<Affiliation>Department of Neuropathology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX1 2JD, UK.</Affiliation>
</AffiliationInfo>
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<LastName>Rodd</LastName>
<ForeName>Celia</ForeName>
<Initials>C</Initials>
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<Affiliation>Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, R3T 2 N2, Canada.</Affiliation>
</AffiliationInfo>
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<LastName>Vance</LastName>
<ForeName>Mary L</ForeName>
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<Affiliation>Department of Endocrinology, University of Virginia, Charlottesville, 22908, USA.</Affiliation>
</AffiliationInfo>
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<LastName>Ramírez-Renteria</LastName>
<ForeName>Claudia</ForeName>
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<Affiliation>Endocrinology Service and Experimental Endocrinology Unit, Hospital de Especialidades Centro Médico Nacional Siglo XXI, IMSS, UNAM, Mexico City, 06720, Mexico.</Affiliation>
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<ForeName>Moisés</ForeName>
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<LastName>Goldstone</LastName>
<ForeName>Anthony P</ForeName>
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<Affiliation>Imperial Centre for Endocrinology, Imperial College Healthcare NHS Trust, W12 0HS, London, UK.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Buchfelder</LastName>
<ForeName>Michael</ForeName>
<Initials>M</Initials>
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<Affiliation>Department of Neurosurgery, University of Duisburg-Essen, Essen, 45141, Germany.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Burren</LastName>
<ForeName>Christine P</ForeName>
<Initials>CP</Initials>
<AffiliationInfo>
<Affiliation>Department of Paediatric Endocrinology, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8HW, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Gurlek</LastName>
<ForeName>Alper</ForeName>
<Initials>A</Initials>
<AffiliationInfo>
<Affiliation>Department of Endocrinology and Metabolism, Faculty of Medicine, Hacettepe University, Ankara, 06100, Turkey.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Dutta</LastName>
<ForeName>Pinaki</ForeName>
<Initials>P</Initials>
<AffiliationInfo>
<Affiliation>Department of Endocrinology, PGIMER, Chandigarh, 160012, India.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Choong</LastName>
<ForeName>Catherine S</ForeName>
<Initials>CS</Initials>
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<Affiliation>Department of Pediatric Endocrinology, Princess Margaret Hospital for Children, Subiaco, 6008, Australia.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Cheetham</LastName>
<ForeName>Timothy</ForeName>
<Initials>T</Initials>
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<Affiliation>Newcastle University c/o Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle-upon-Tyne, NE1 4LP, UK.</Affiliation>
</AffiliationInfo>
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<LastName>Trivellin</LastName>
<ForeName>Giampaolo</ForeName>
<Initials>G</Initials>
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<Affiliation>Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, 20892, USA.</Affiliation>
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<ForeName>Constantine A</ForeName>
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<LastName>Lopes</LastName>
<ForeName>Maria-Beatriz</ForeName>
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<Affiliation>Department of Pathology, University of Virginia, Charlottesville, 22908, USA.</Affiliation>
</AffiliationInfo>
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<LastName>Grossman</LastName>
<ForeName>Ashley B</ForeName>
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<AffiliationInfo>
<Affiliation>Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, OX1 2JD, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Trouillas</LastName>
<ForeName>Jacqueline</ForeName>
<Initials>J</Initials>
<AffiliationInfo>
<Affiliation>Department of Pathology, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, 69500, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Lupski</LastName>
<ForeName>James R</ForeName>
<Initials>JR</Initials>
<AffiliationInfo>
<Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>Department of Pediatrics, Baylor College of Medicine Houston, Houston, TX, 77030, USA.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>Human Genome Sequencing Center, Baylor College of Medicine Houston, Houston, TX, 77030, USA.</Affiliation>
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<Affiliation>Texas Children's Hospital, Houston, TX, 77030, USA.</Affiliation>
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<LastName>Ellard</LastName>
<ForeName>Sian</ForeName>
<Initials>S</Initials>
<AffiliationInfo>
<Affiliation>Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, EX2 5DW, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Sampson</LastName>
<ForeName>Julian R</ForeName>
<Initials>JR</Initials>
<AffiliationInfo>
<Affiliation>Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Roncaroli</LastName>
<ForeName>Federico</ForeName>
<Initials>F</Initials>
<AffiliationInfo>
<Affiliation>Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, M13 9PL, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Korbonits</LastName>
<ForeName>Márta</ForeName>
<Initials>M</Initials>
<AffiliationInfo>
<Affiliation>Centre for Endocrinology, Barts and The London School of Medicine, London, EC1M 6BQ, UK. m.korbonits@qmul.ac.uk.</Affiliation>
</AffiliationInfo>
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<Language>eng</Language>
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<GrantID>MR/L022656/1</GrantID>
<Agency>Medical Research Council</Agency>
<Country>United Kingdom</Country>
</Grant>
<Grant>
<GrantID>R01 NS058529</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>U54 HG006542</GrantID>
<Acronym>HG</Acronym>
<Agency>NHGRI NIH HHS</Agency>
<Country>United States</Country>
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<Month>06</Month>
<Day>01</Day>
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