A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome
Pituitary stalk interruption syndrome (PSIS) is characterized by the association of an absent or thin pituitary stalk, an absent or hypoplastic anterior pituitary lobe and an ectopic posterior pituitary (EPP) lobe. The causes of this anatomical defect include both genetic and environmental factors. Molecular genetic defects have been indentified in a small number of patients with PSIS. A 4-year-old boy presented with hypoglycemia and hyponatremia associated with growth hormone, thyroid stimulating hormone, and adrenocorticotropic hormone deficiencies. The patient had right sided strabismus. magnetic resonance imaging images showed pituitary hypoplasia, EPP and absent pituitary stalk. A novel Receptor Roundabout-1 (ROBO1) missense mutation (c.1690C>T, p.Pro564Ser) that may contribute to the disorder was found in this patient and his mother, who also exhibited pituitary abnormalities.
['Liu|Ziqin|Z|0000-0003-3310-4861', 'Chen|Xiaobo|X|0000-0003-0759-9899']
D002675:Child, Preschool D006801:Humans D008297:Male D020125:Mutation, Missense D009419:Nerve Tissue Proteins D010900:Pituitary Diseases D010903:Pituitary Gland, Anterior D010904:Pituitary Gland, Posterior D011971:Receptors, Immunologic D013577:Syndrome
missense mutation pituitary stalk interruption syndrome Receptor Roundabout-1 gene combined pituitary hormone deficiency