ESPE Abstracts

Introduction: The melanocortin-4 receptor (MC4R) pathway is critical for hunger regulation, energy balance, and weight regulation. In patients with Bardet–Biedl syndrome (BBS), a rare, genetically heterogeneous, and highly pleiotropic disease, the immotile primary cilia are dysfunctional, leading to MC4R pathway impairment. Patients suffer from symptoms including early vision loss, learning difficulties, and renal dysfunction, next to hyperphagia and ear...

Background: Generalized lymphatic anomaly (GLA) is a rare congenital disorder characterized by aggressive proliferation of dilated lymphatic vessels. The etiology of GLA is poorly understood.Objective and hypotheses: To identify the underlying genetic basis for GLA.Method: Exome sequencing (ES) was performed in two families, including a multigenerational family (family-1) with six affected members. RNA-seq was performed on skin bio...

The melanocortin-4 receptor (MC4R) pathway is critical for the regulation of hunger, energy balance, and weight regulation. Individuals who carry variants in MC4R pathway genes may present with early-onset severe obesity and hyperphagia. Historically, genetic testing in individuals with severe obesity has been limited. The Rare Obesity Advanced Diagnosis™ genetic testing program aims to enhance access to genetic testing for European individuals with suspected rare geneti...

Introduction: Patients with genetic variants in the melanocortin-4 receptor (MC4R) pathway may present with hyperphagia and early-onset obesity. Increasing awareness of genetic testing could improve diagnosis and identification of patients who might benefit from novel precision therapies. Moreover, the frequency of specific genetic variants in this population is currently unknown. The Rare Obesity Advanced Diagnosis ™ (ROAD) genetic testing prog...

Introduction: Genetic variants in the melanocortin-4 receptor (MC4R) pathway can lead to hyperphagia and early-onset obesity. Increasing awareness of genetic testing may aid in the diagnosis and identification of patients who could benefit from novel precision therapies. To enhance access to genetic testing for patients with suspected rare MC4R pathway diseases, the Rare Obesity Advanced Diagnosis ™ (ROAD) genetic testing program was established...

Background: Patients with genetic variants in the melanocortin-4 receptor (MC4R) pathway may present with early-onset, severe obesity and hyperphagia. Increasing awareness of genetic testing could improve diagnosis of rare genetic causes of obesity and identify patients who might benefit from targeted therapy; however, such testing has been limited. Moreover, the frequency of specific genetic variants in this population is currently unknown. The Rare Obesity A...