Seven novel deleterious LEPR mutations found in early-onset obesity: a ΔExon6-8 shared by subjects from Reunion Island, France, suggests a founder effect

The Journal of Clinical Endocrinology and Metabolism
Hélène HuvenneKarine Clement

Abstract

Infrequent mutations have been reported in the leptin receptor (LEPR) gene in humans with morbid obesity and endocrine disorders. However LEPR mutations are rarely examined in large populations from different ethnicities in a given country. We estimated the prevalence of LEPR mutations in French patients with severe obesity and evaluated mutated patients' phenotype. We sequenced the LEPR gene in 535 morbidly obese French participants. We conducted clinical investigations to determine whether individuals with a novel shared mutation display particular characteristics relative to obesity history, body composition, hormonal functions, and the outcome of bariatric surgery. We identified 12 patients with a novel LEPR mutation (p.C604G, p.L786P, p.H800_N831del, p.Y422H, p.T711NfsX18, p.535-1G>A, p.P166CfsX7). Six unrelated subjects were carriers of the p.P166CfsX7 mutation leading to deletion overlapping exons 6 to 8. All subjects originated from Reunion Island (France). Their clinical features (severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism) did not differ from other new LEPR mutation carriers. Results concerning weight loss surgery were inconsistent in homozygous LEPR mutation carriers. Heterozygous...Continue Reading

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Citations

Mar 28, 2017·Obesity Reviews : an Official Journal of the International Association for the Study of Obesity·Y KaurD Meyre
Mar 24, 2018·International Journal of Obesity : Journal of the International Association for the Study of Obesity·Katja KohlsdorfMartin Wabitsch
Oct 13, 2017·Obesity Reviews : an Official Journal of the International Association for the Study of Obesity·C StryjeckiD Meyre
Dec 19, 2018·Journal of the Endocrine Society·Adriana NunziataMartin Wabitsch
Feb 20, 2019·Hormones : International Journal of Endocrinology and Metabolism·Coşkun ArmağanKorcan Demir
Oct 24, 2019·Obesity Surgery·Jared BaxterTiffany Tanner
Jul 31, 2020·Current Diabetes Reports·Niels VosMieke M van Haelst
Dec 22, 2017·Obesity Reviews : an Official Journal of the International Association for the Study of Obesity·M PigeyreD Meyre
Aug 20, 2018·Current Diabetes Reports·Una FairbrotherAndrew Walley
May 8, 2018·Nature Medicine·Karine ClémentPeter Kühnen
Aug 28, 2015·Current Opinion in Endocrinology, Diabetes, and Obesity·Olivia M FarrChristos S Mantzoros
Aug 18, 2020·Physiology & Behavior·K ClémentC Poitou
Nov 4, 2020·Molecular and Cellular Pediatrics·Stefanie ZornMartin Wabitsch
Apr 19, 2018·Prilozi·Marko KostovskiZoran Gucev
Dec 17, 2016·Soins; la revue de référence infirmière·Pauline Faucher, Christine Poitou
May 1, 2021·International Journal of Molecular Sciences·Claudia Berger, Nora Klöting
Jun 5, 2021·Surgery for Obesity and Related Diseases : Official Journal of the American Society for Bariatric Surgery·Christine PoitouKarine Clément
Jul 3, 2021·International Journal of Molecular Sciences·Valentina Annamaria GenchiSebastio Perrini
Jun 8, 2021·The Journal of Clinical Endocrinology and Metabolism·Sophie CourbageBéatrice Dubern
Aug 28, 2021·Molecular and Cellular Pediatrics·Ingrid Koerber-RossoMartin Wabitsch

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