Abstract Search

hrp0097rfc8.1 | Fat, metabolism and obesity 2 | ESPE2023

A novel heterozygous likely pathogenic variant in GNB1 causing hyperphagia, severe early onset obesity and neurodevelopmental disorder

Karantza Maria , Hun Seo Go , Hyun Seong-In , Lee Hane , Kitsiou Sophia , Michala Lina , Kostopoulou Eirini

The proband is a 12 yr old Caucasian European girl with grade 3 obesity, developmental delay and hyperphagia. She was born at term via an uncomplicated pregnancy and exhibited neonatal hypotonia, difficulty feeding, failure to thrive and delayed attenuation of milestones. At the age of 2 years she started developing hyperphagia and rapid excessive weight gain. Molecular analysis for Prader Willi syndrome and array CGH were negative. At the age of 10 yrs she was diagnosed with ...

0 shares

ESPE Abstracts

A novel heterozygous likely pathogenic variant in GNB1 causing hyperphagia, severe early onset obesity and neurodevelopmental disorder

BiosciAbstracts