Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome

Anu Bashamboo (1) , Joelle Bignon-Topalovic (1) , Nasser Moussi (1) , Ken Mcelreavey (1) , Raja Brauner (2, 3)

1 Génétique du Développement humain - Human developmental genetics
2 Fondation Ophtalmologique Adolphe de Rothschild [Paris]
3 UPD5 - Université Paris Descartes - Paris 5

Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk usually in association with an ectopic posterior pituitary and hypoplasia/aplasia of the anterior pituitary. Associated phenotypes include varied ocular anomalies, hypoglycemia, micropenis/cryptorchidism, growth failure, or combined pituitary hormone deficiencies. Although genetic causes have been identified, they explain only around 5% of PSIS cases.

Domains: Life Sciences [q-bio]; Reproductive Biology

Anu Bashamboo, Joelle Bignon-Topalovic, Nasser Moussi, Ken Mcelreavey, Raja Brauner. Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome. Journal of Clinical Endocrinology and Metabolism, 2017, 102 (7), pp.2401-2406. ⟨10.1210/jc.2016-1095⟩. ⟨pasteur-03521845⟩