ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2020; 12(2): 212-217 | DOI: 10.4274/jcrpe.galenos.2019.2018.0309

A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome

Ziqin Liu1, Xiaobo Chen1
Capital Institute of Pediatrics, Clinic of Endocrinology, Beijing, China

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.

Keywords: Receptor Roundabout-1 gene, pituitary stalk interruption syndrome, combined pituitary hormone deficiency, missense mutation

Ziqin Liu, Xiaobo Chen. A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome. J Clin Res Pediatr Endocrinol. 2020; 12(2): 212-217
Manuscript Language: English
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