ESPE2024 Poster Category 3 Fat, Metabolism and Obesity (35 abstracts)
Monogenic Obesity in a Familial Cluster: Insights into Laurence-Moon-Bardet-Biedl Syndrome (LMBBS) & Lectin Deficiency associated with Genetic Variants in BBS12 and LEPR Genes
Versha Rai 1 , Qissa Zehra 1 , Mohsina Noor Ibrahim 2 & Maira Riaz 2
1Karachi, Karachi, Pakistan. 2NICH, Karachi, Pakistan
Monogenic obesity is a rare yet clinically significant condition characterized by excessive weight gain stemming from genetic mutations affecting appetite regulation and energy balance. Here, this case series explores the clinical presentation and genetic underpinnings of monogenic obesity in a familial cluster, shedding light on Laurence-Moon-Bardet-Biedl Syndrome (LMBBS) & letin deficiency associated with the genetic variants in the BBS1 and LEPR genes. The index patient, an 11-year-old female, presented with progressive weight gain since infancy, accompanied by acanthosis nigricans on neck and axillary region. Genetic testing revealed mutation in both BBS1 and LEPR genes, implicating a monogenic etiology of obesity. Remarkably, her two siblings and a cousin from the paternal side displayed similar clinical profiles and shared the same genetic variants. This report underscores the significance of genetic testing in diagnosing monogenic obesity disorders and emphasizes the familial clustering observed in such cases
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