Article
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.
Indian journal of pediatrics - 1 Feb 2020
Khadilkar Vaman, Gogate Nikhita, Gangodkar Priyanka, Ranade Shatakshi, Lohiya Nikhil, Ragte Trupti, Patil Kunal, Pilankar Asawari, Anand Siddharth, Bapat Ashwini, Agarwal Meenal, Kaushik Karishma, Lote-Oke Rashmi, Khadilkar Anuradha, Phadke Nikhil
Abstract excerpt
OBJECTIVES: To screen for variants in the MC4R and LEP genes in 46 patients with clinical suspicion of non-syndromic early onset severe obesity (NEOSO). METHODS: Children with early onset obesity satisfying WHO criteria of obesity were studied. The MC4R and LEP genes were sequenced using a PCR amplicon based NGS on Illumina MiSeq next generation sequencer using an in-house developed protocol. RESULTS: Of the 46...
Topics
- Child, Preschool
- Female
- Genetic Predisposition to Disease
- Genetic Testing
- High-Throughput Nucleotide Sequencing
- Humans
- Infant
- Leptin
- Male