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PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.
Rachel Reynaud1, Sujatha A Jayakody, Carine Monnier
1Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille (CRN2M), Centre National de la Recherche Scientifique, Unité Mixte de Recherche 7286, Aix-Marseille University, France. rachel.reynaud@ap-hm.fr
The Journal of Clinical Endocrinology and Metabolism
|April 3, 2012
Summary
Genetic mutations in PROKR2 are linked to congenital hypopituitarism with pituitary stalk interruption. This suggests the prokineticin pathway is crucial for pituitary development.
Area of Science:
- Genetics
- Endocrinology
- Developmental Biology
Background:
- Congenital hypopituitarism with pituitary stalk interruption (APSI) is a common endocrine disorder.
- Genetic causes for APSI are rarely identified, necessitating further research into underlying mechanisms.
Observation:
- The prokineticin 2 (PROK2) pathway is implicated in angiogenesis and neuronal migration, processes vital for pituitary development.
- This study investigated PROK2 and its receptor PROKR2 as candidate genes for APSI.
Findings:
- Two known PROKR2 mutations and one novel variant were identified in patients with APSI.
- The novel PROKR2 variant (p.Ala51Thr) did not impair receptor signaling.
- Deleterious variants in HESX1 were also found, with one patient harboring both HESX1 and PROKR2 variants.
Implications:
- These findings implicate the PROKR2 gene and the prokineticin pathway in the etiology of congenital hypopituitarism with pituitary stalk interruption.
- This expands the genetic landscape of APSI and highlights potential therapeutic targets.
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