A Targeted Next Generation Sequencing Panel for Non-syndromic Early Onset Severe Obesity and Identification of Novel Likely -Pathogenic Variants in the MC4R and LEP Genes.
Vaman KhadilkarNikhita GogatePriyanka GangodkarShatakshi RanadeNikhil LohiyaTrupti RagteKunal PatilAsawari PilankarSiddharth AnandAshwini BapatMeenal AgarwalKarishma KaushikRashmi Lote-OkeAnuradha Vaman KhadilkarNikhil PhadkePublished in: Indian journal of pediatrics (2020)
Four children with novel likely pathogenic variants in the MC4R and LEP genes are reported. Genetic analysis is crucial in children with early onset obesity and should be considered.
Keyphrases
- early onset
- late onset
- copy number
- insulin resistance
- bioinformatics analysis
- metabolic syndrome
- weight loss
- young adults
- genome wide
- type diabetes
- weight gain
- high fat diet induced
- intellectual disability
- genome wide identification
- skeletal muscle
- adipose tissue
- autism spectrum disorder
- gene expression
- body mass index
- cell free