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The Indian Journal of Pediatrics

, Volume 87, Issue 2, pp 105–110 | Cite as

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 Khadilkar
  • Nikhita Gogate
  • Priyanka Gangodkar
  • Shatakshi Ranade
  • Nikhil Lohiya
  • Trupti Ragte
  • Kunal Patil
  • Asawari Pilankar
  • Siddharth Anand
  • Ashwini Bapat
  • Meenal Agarwal
  • Karishma Kaushik
  • Rashmi Lote-Oke
  • Anuradha KhadilkarEmail author
  • Nikhil Phadke
Original Article

Abstract

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 children tested, four were found to have novel pathogenic/likely-pathogenic variants (one in the MC4R gene and three in the LEP gene). In three out of the 4 families, the presence of the variants was confirmed using standard bidirectional capillary sequencing in the probands.

Conclusions

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.

Keywords

Genetic obesity Non-syndromic early onset obesity 

Notes

Authors’ Contribution

VK: Concept, patient management and manuscript draft; NP: NGS assay design; NG, PG, RLO: Data collection and manuscript draft; NP, MA, AK, NL: Patient management and manuscript draft. SR, TR, KP, AP, SA, AB: Manuscript draft. KK: Data collection, analysis and manuscript writing. AK is the guarantor for this paper.

Compliance with Ethical Standards

Conflict of Interest

None.

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Copyright information

© Dr. K C Chaudhuri Foundation 2020

Authors and Affiliations

  • Vaman Khadilkar
    • 1
  • Nikhita Gogate
    • 2
  • Priyanka Gangodkar
    • 2
  • Shatakshi Ranade
    • 2
  • Nikhil Lohiya
    • 1
  • Trupti Ragte
    • 2
  • Kunal Patil
    • 2
  • Asawari Pilankar
    • 2
  • Siddharth Anand
    • 2
  • Ashwini Bapat
    • 2
  • Meenal Agarwal
    • 2
  • Karishma Kaushik
    • 2
  • Rashmi Lote-Oke
    • 1
  • Anuradha Khadilkar
    • 1
    Email author
  • Nikhil Phadke
    • 2
  1. 1.Department of Growth and Pediatric EndocrinologyHirabai Cowasji Jehangir Medical Research Institute, Jehangir HospitalPuneIndia
  2. 2.Molecular GeneticsGenePath Diagnostics; I-SHARE FoundationPuneIndia

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