A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

• Nadine C. Hornig ,

  * E-mail: holterhus@pediatrics.uni-kiel.de (PMH); nhornig@medgen.uni-kiel.de (NH)

  Affiliations Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany, Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany

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• Carine de Beaufort,

  Affiliation Pediatric Clinic, CH de Luxembourg, Luxembourg, GD de Luxembourg

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• Friederike Denzer,

  Affiliation Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University Ulm, Ulm, Germany

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• Martine Cools,

  Affiliation Department of Pediatrics, Division of Pediatric Endocrinology, Ghent University Hospital and Ghent University, Ghent, Belgium

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• Martin Wabitsch,

  Affiliation Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University Ulm, Ulm, Germany

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• Martin Ukat,

  Affiliation Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany

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• Alexandra E. Kulle,

  Affiliation Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany

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• Hans-Udo Schweikert,

  Affiliation Department of Medicine III, University Bonn, Bonn, Germany

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• Ralf Werner,

  Affiliation Department of Pediatrics, Division of Experimental Pediatric Endocrinology, University Lübeck, Lübeck, Germany

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• Olaf Hiort,

  Affiliation Department of Pediatrics, Division of Experimental Pediatric Endocrinology, University Lübeck, Lübeck, Germany

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• Laura Audi,

  Affiliation Hospital Vall d'Hebron, Vall d’Hebron Research Institute (VHIR) & Centre for Biomedical Research Network on Rare Diseases (CIBERER), Barcelona, Spain

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• Reiner Siebert,

  Affiliation Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany

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• Ole Ammerpohl,

  Affiliation Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany

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• Paul-Martin Holterhus

  * E-mail: holterhus@pediatrics.uni-kiel.de (PMH); nhornig@medgen.uni-kiel.de (NH)

  Affiliation Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany

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