Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia
| Autor: | Mariasavina Severino, Valeria Capra, Mohamad Maghnie, Anna Allegri, Marcello Scala, Elisa Tassano, Giovanni Morana, Andrea Accogli |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
pituitary gland development pituitary stalk duplication Roundabout receptor 1 Child Preschool Female Humans Hypopituitarism Nerve Tissue Proteins Pituitary Diseases Pituitary Gland Prognosis Receptors Immunologic Gene Deletion Genetic Predisposition to Disease Pituitary gland Pathology medicine.medical_specialty Endocrinology Diabetes and Metabolism 03 medical and health sciences 0302 clinical medicine Endocrinology Immunologic ROBO1 Receptors Gene duplication medicine Child Preschool Pituitary stalk business.industry Phenotype Ectopic Posterior Pituitary 030104 developmental biology medicine.anatomical_structure Pediatrics Perinatology and Child Health Axon guidance business Haploinsufficiency 030217 neurology & neurosurgery |
| Zdroj: | Journal of Pediatric Endocrinology and Metabolism. 32:95-99 |
| ISSN: | 2191-0251 0334-018X |
| DOI: | 10.1515/jpem-2018-0272 |
| Popis: | Background The genetic causes of abnormal pituitary development have been extensively studied in the last few years. ROBO1 is involved in neurogenesis and axon guidance. Loss-of-function variants in ROBO1 have been associated with pituitary stalk interruption syndrome (PSIS), suggesting that its haploinsufficiency could impair the guidance of hypothalamic axons to the pituitary gland leading to developmental abnormalities. Case presentation We report a 4.5-year-old girl with anterior pituitary hypoplasia and pituitary stalk duplication in the ventral-dorsal direction. Her father had a similar pituitary phenotype, characterized by anterior pituitary hypoplasia combined with ectopic posterior pituitary. Comparative genomic hybridization (CGH) microarray analysis identified a 343.7 kb deletion of 3p12.3 encompassing ROBO1 in both individuals. Conclusions We report the first familial ROBO1 deletion in two individuals with peculiar pituitary anomalies, including the rare pituitary stalk duplication in the ventral-dorsal direction. These findings widen the spectrum of the phenotypes associated with ROBO1 haploinsufficiency and support its role in human pituitary development. |
| Databáze: | OpenAIRE |
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