hrp0097fc10.4 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

A Novel Mutation in RAI1 Gene in a Patient with Clinical Diagnosis of Rapid-Onset Obesity with Hypothalamic Dysregulation, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome with Overlapping Symptoms of Smith Magenis Syndrome (SMS).

Berra Madalin , Dreimane Daina , Bhangoo Amrit

Background: Pathologic mutations in RAI1 gene (typically microdeletions) cause SMS. Patients have characteristic physical appearance, developmental delay, sleep disturbances, and obesity; without hypothalamic dysfunction. Thaker et al published a case of a child with clinical diagnosis of ROHHAD with a mutation in the RAI1 gene (c.3265C>T: p.R1089X) found by whole exome sequencing. He had a physical appearance consistent with SMS and sleep cycle di...