ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2018; 10(3): 274-278 | DOI: 10.4274/jcrpe.5501

Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India

Devi Dayal1, Keerthivasan Seetharaman1, Inusha Panigrahi2, Balasubramaniyan Muthuvel1, Ashish Agarwal1
1Postgraduate Institute of Medical Education and Research, Department of Pediatrics, Division of Pediatric Endocrinology, Chandigarh, India
2Postgraduate Institute of Medical Education and Research, Department of Pediatrics, Division of Genetic-Metabolic, Chandigarh, India

Monogenic obesity, caused by mutations in one of the genes involved in the control of hunger and satiety, is a rare cause of early onset obesity (EOO). The most common of the single gene alterations affect the leptin gene (LEP), resulting in congenital leptin deficiency that manifests as intense hyperphagia, EOO and severe obesity associated with hormonal and metabolic alterations. Only eight mutations of LEP associated with congenital leptin deficiency have been described in humans to date. In this study, we report a novel, homozygous, missense mutation in exon 3 of the LEP gene (chr7:127894610;c.298G>A) resulting in the amino acid substitution of asparagine for aspartic acid at codon 100 (p.Asp100Asn) in a 10-month-old infant who presented to us with severe hyperphagia and EOO. She was subsequently found to have low serum leptin concentrations. Additionally, a homozygous missense variation of unknown significance in exon 11 of Bardet-Biedl syndrome-1 gene (chr11:66291279; G>A; Depth 168x) was detected. Significant abnormalities of lipid parameters were also present in our patient. Both parents were thin but there was a family history suggestive of EOO in a paternal uncle and a cousin. In conclusion, we report the second patient from India with a novel mutation of the LEP gene associated with severe obesity.

Keywords: Congenital leptin deficiency, monogenic obesity, leptin gene, novel mutation, early onset obesity, India

Devi Dayal, Keerthivasan Seetharaman, Inusha Panigrahi, Balasubramaniyan Muthuvel, Ashish Agarwal. Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India. J Clin Res Pediatr Endocrinol. 2018; 10(3): 274-278
Manuscript Language: English
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