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.

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.

journal_name

Indian J Pediatr

authors

Khadilkar V,Gogate N,Gangodkar P,Ranade S,Lohiya N,Ragte T,Patil K,Pilankar A,Anand S,Bapat A,Agarwal M,Kaushik K,Lote-Oke R,Khadilkar A,Phadke N

doi

10.1007/s12098-019-03129-6

subject

Has Abstract

pub_date

2020-02-01 00:00:00

pages

105-110

issue

2

eissn

0019-5456

issn

0973-7693

pii

10.1007/s12098-019-03129-6

journal_volume

87

pub_type

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