Abstract | BACKGROUND: METHODS: FOXL2 was analyzed in 10 patients with hypopituitarism (ranging from isolated GHD to complete pituitary hormone deficiency) and eyelid anomalies (typical BPES in 4 patients and milder anomalies in 6 patients). In patients with an FOXL2 mutation, we ruled out other possible molecular explanations by analyzing a panel of 20 genes known to be associated with hypopituitarism, and a candidate gene approach was used for patients without an FOXL2mutation. RESULTS: Three patients had an FOXL2mutation. All 3 had typical BPES. Their pituitary phenotype varied from GHD to complete pituitary hormone deficiency and their pituitary morphology ranged from normal to an interrupted pituitary stalk. No mutations were found in genes previously associated with hypopituitarism. CONCLUSION: Our study shows that some patients with BPES have hypopituitarism with no molecular explanation other than FOXL2 mutation. This points toward an involvement of FOXL2 in human pituitary development.
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Authors | Sarah Castets, Florence Roucher-Boulez, Alexandru Saveanu, Delphine Mallet-Motak, Olivier Chabre, Patrizia Amati-Bonneau, Dominique Bonneau, Celine Girardin, Yves Morel, Carine Villanueva, Thierry Brue, Rachel Reynaud, Marc Nicolino |
Journal | Hormone research in paediatrics
(Horm Res Paediatr)
Vol. 93
Issue 1
Pg. 30-39
( 2020)
ISSN: 1663-2826 [Electronic] Switzerland |
PMID | 32454486
(Publication Type: Journal Article)
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Copyright | © 2020 S. Karger AG, Basel. |
Chemical References |
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Topics |
- Animals
- Blepharophimosis
(complications, genetics)
- Forkhead Box Protein L2
(genetics)
- Genetic Predisposition to Disease
- Humans
- Hypopituitarism
(complications, genetics)
- Male
- Mice
- Mutation
- Pedigree
- Phenotype
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