{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:11:42Z","timestamp":1791353502220,"version":"4.3.1"},"reference-count":32,"publisher":"The Endocrine Society","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Context: PROP1 gene mutations are usually associated with childhood onset GH and TSH deficiencies, whereas gonadotroph deficiency is diagnosed at pubertal age.<\/jats:p>\n               <jats:p>Objectives: We report a novel PROP1 mutation revealed by familial normosmic hypogonadotropic hypogonadism. We performed in vitro transactivation and DNA binding experiments to study functional consequences of this mutation.<\/jats:p>\n               <jats:p>Setting: Three brothers were followed in the Department of Endocrinology of a French university hospital.<\/jats:p>\n               <jats:p>Patients: These patients from a consanguineous kindred were referred for cryptorchidism and\/or delayed puberty.<\/jats:p>\n               <jats:p>Results: Initial investigations revealed hypogonadotropic hypogonadism. One of the patients had psychomotor retardation, intracranial hypertension, and minor renal malformations. The brothers reached normal adult height and developed GH and TSH deficiencies after age 30. A novel homozygous nonsense mutation (W194X) was found in the PROP1 gene, indicating that the protein is truncated in its transactivation domain. Transfection studies confirmed the deleterious effect of this mutation, whose transactivation capacity was only 34.4% of that of the wild-type. Unexpectedly altered DNA-binding properties suggested that the C-terminal end of the factor plays a role in protein-DNA interaction.<\/jats:p>\n               <jats:p>Conclusions: PROP1 mutations should be considered among the growing number of genetic causes of initially isolated hypogonadotropic hypogonadism. This report extends the phenotype variability associated with PROP1 mutations.<\/jats:p>","DOI":"10.1210\/jc.2005-0119","type":"journal-article","created":{"date-parts":[[2005,8,8]],"date-time":"2005-08-08T21:37:43Z","timestamp":1123537063000},"page":"4880-4887","source":"Crossref","is-referenced-by-count":55,"title":["An Uncommon Phenotype with Familial Central Hypogonadism Caused by a Novel PROP1 Gene Mutant Truncated in the Transactivation Domain"],"prefix":"10.1210","volume":"90","author":[{"given":"Rachel","family":"Reynaud","sequence":"first","affiliation":[{"name":"Laboratoire des Interactions Cellulaires Neuro-Endocriniennes (R.R., A.B., S.V.-K., A.S., M.-P.G., A.E., T.B.), Unite\u0301 Mixte de Recherche 6544 Centre National de la Recherche Scientifique, Universite\u0301 de la Me\u0301diterrane\u0301e, Institut Fe\u0301de\u0301ratif de Recherche Jean-Roche, Faculte\u0301 de Me\u0301decine Nord, 13926 Marseille, France"},{"name":"Departments of Pediatrics (R.R., G.S.), Ho\u0302pital de la Conception, 13385 Marseille Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Barlier","sequence":"additional","affiliation":[{"name":"Laboratoire des Interactions Cellulaires Neuro-Endocriniennes (R.R., A.B., S.V.-K., A.S., M.-P.G., A.E., T.B.), Unite\u0301 Mixte de Recherche 6544 Centre National de la Recherche Scientifique, Universite\u0301 de la Me\u0301diterrane\u0301e, Institut Fe\u0301de\u0301ratif de Recherche Jean-Roche, Faculte\u0301 de Me\u0301decine Nord, 13926 Marseille, France"},{"name":"Departments of Pediatrics (R.R., G.S.), Ho\u0302pital de la Conception, 13385 Marseille Cedex, France"},{"name":"Endocrinology (A.B., A.S., T.B.), Ho\u0302pital de la Conception, 13385 Marseille Cedex, France"},{"name":"Centre Hospitalo-Universitaire Timone, Laboratoire de Biochimie et Biologie Mole\u0301culaire (A.B., A.S., A.E.), Ho\u0302pital de la Conception, 13385 Marseille Cedex, 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Marseille, France"},{"name":"Departments of Pediatrics (R.R., G.S.), Ho\u0302pital de la Conception, 13385 Marseille Cedex, France"},{"name":"Endocrinology (A.B., A.S., T.B.), Ho\u0302pital de la Conception, 13385 Marseille Cedex, France"},{"name":"Centre Hospitalo-Universitaire Timone, Laboratoire de Biochimie et Biologie Mole\u0301culaire (A.B., A.S., A.E.), Ho\u0302pital de la Conception, 13385 Marseille Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Pierre","family":"Guillet","sequence":"additional","affiliation":[{"name":"Laboratoire des Interactions Cellulaires Neuro-Endocriniennes (R.R., A.B., S.V.-K., A.S., M.-P.G., A.E., T.B.), Unite\u0301 Mixte de Recherche 6544 Centre National de la Recherche Scientifique, Universite\u0301 de la Me\u0301diterrane\u0301e, Institut Fe\u0301de\u0301ratif de Recherche Jean-Roche, Faculte\u0301 de Me\u0301decine Nord, 13926 Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilbert","family":"Simonin","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics (R.R., G.S.), Ho\u0302pital de la Conception, 13385 Marseille Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Enjalbert","sequence":"additional","affiliation":[{"name":"Laboratoire des Interactions Cellulaires Neuro-Endocriniennes (R.R., A.B., S.V.-K., A.S., M.-P.G., A.E., T.B.), Unite\u0301 Mixte de Recherche 6544 Centre National de la Recherche Scientifique, Universite\u0301 de la Me\u0301diterrane\u0301e, Institut Fe\u0301de\u0301ratif de Recherche Jean-Roche, Faculte\u0301 de Me\u0301decine Nord, 13926 Marseille, France"},{"name":"Centre Hospitalo-Universitaire Timone, Laboratoire de Biochimie et Biologie Mole\u0301culaire (A.B., A.S., A.E.), Ho\u0302pital de la Conception, 13385 Marseille Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Valensi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Ho\u0302pital Jean Verdier (P.V.), Assistance Publique-Ho\u0302pitaux de Paris, 93143 Bondy Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Brue","sequence":"additional","affiliation":[{"name":"Laboratoire des Interactions Cellulaires Neuro-Endocriniennes (R.R., A.B., S.V.-K., A.S., M.-P.G., A.E., T.B.), Unite\u0301 Mixte de Recherche 6544 Centre National de la Recherche Scientifique, Universite\u0301 de la Me\u0301diterrane\u0301e, Institut Fe\u0301de\u0301ratif de Recherche Jean-Roche, Faculte\u0301 de Me\u0301decine Nord, 13926 Marseille, France"},{"name":"Departments of Pediatrics (R.R., G.S.), Ho\u0302pital de la Conception, 13385 Marseille Cedex, France"},{"name":"Endocrinology (A.B., A.S., T.B.), Ho\u0302pital de la Conception, 13385 Marseille Cedex, 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