The Study of Genetic Mutations in Genes AGPAT2, LMNA, PPARG, PLIN1, AKT2, CIDEC in Kobberling Dunnigan Syndrome

Abstract

Shahin Asadi and Samaneh Sadeh Dell

Köbberling-Dunnigan syndrome, also known as partial familial lip dystrophy, is a rare genetic disorder characterized by abnormal distribution of adipose tissue. Many people with Köbberling-Dunnigan syndrome develop insulin resistance, a condition in which body tissues cannot adequately respond to insulin hormone. Insulin hormone is a hormone that helps regulate the level of your blood glucose. Köbberling-Dunnigan syndrome can be due to mutations in several different genes. However, type 2 Köbberling-Dunnigan syndrome is caused by the mutation of the LMNA gene, which is based on the long arm of chromosome 1 as 1q22.

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