Potential Role of Gender Specific Effect of Leptin Receptor Deficiency in an Extended Consanguineous Family With Severe Early-Onset Obesity

Potential Role of Gender Specific Effect of Leptin Receptor Deficiency in an Extended Consanguineous Family With Severe Early-Onset Obesity Publisher Pubmed

Dehghani MR^{1, 2} ; Mehrjardi MYV^{1, 3} ; Dilaver N⁴ ; Tajamolian M² ; Enayati S⁵ ; Ebrahimi P⁶ ; Amoli MM^{5, 7} ; Farooqi S⁸ ; Maroofian R⁹

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1. Reproductive and Genetic Unit, Yazd Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2. Medical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3. Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4. Swansea University Medical School, Swansea University, Swansea, United Kingdom
5. Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
6. Molecular Medicine Department, Sapienza University of Rome, Italy
7. EMRI, Dr Shariati Hospital, North Karegar St, Tehran, Iran
8. University of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, United Kingdom
9. Molecular and Clinical Sciences Institute, St George's University of London, Cranmer Terrace, London, United Kingdom

Source: European Journal of Medical Genetics Published:2018

Abstract

Congenital Leptin receptor (LEPR) deficiency is a rare genetic cause of early-onset morbid obesity characterised by severe early onset obesity, major hyperphagia, hypogonadotropic hypogonadism and immune and neuroendocrine/metabolic dysfunction. We identified a homozygous loss-of-function mutation, NM_002303.5:c.464 T > G; p.(Tyr155*), in the LEPR in an extended consanguineous family with multiple individuals affected by early-onset severe obesity and hyperphagia. Interestingly, the LEPR-deficient adult females have extremely high body mass index (BMI) with hypogonadal infertility, the BMI of the affected males began to decline around the onset of puberty (13–15 years) with fertility being preserved. These findings lead to the speculation that LEPR deficiency may have a gender-specific effect on the regulation of body weight. In order to elucidate gender-specific effects of LEPR deficiency on reproduction further investigations are needed. The limitations of this study are that our conclusion is based on observations of two males and two females. Further LEPR deficient males and females are required for comparison in order to support this finding more confidently. © 2018 Elsevier Masson SAS

Style	Citing Format
MLA	Dehghani MR, et al.. "Potential Role of Gender Specific Effect of Leptin Receptor Deficiency in an Extended Consanguineous Family With Severe Early-Onset Obesity." European Journal of Medical Genetics, vol. 61, no. 8, 2018, pp. 465-467.
APA	Dehghani MR, Mehrjardi MYV, Dilaver N, Tajamolian M, Enayati S, Ebrahimi P, Amoli MM, Farooqi S, Maroofian R (2018). Potential Role of Gender Specific Effect of Leptin Receptor Deficiency in an Extended Consanguineous Family With Severe Early-Onset Obesity. European Journal of Medical Genetics, 61(8), 465-467.
Chicago	Dehghani MR, Mehrjardi MYV, Dilaver N, Tajamolian M, Enayati S, Ebrahimi P, Amoli MM, Farooqi S, Maroofian R. "Potential Role of Gender Specific Effect of Leptin Receptor Deficiency in an Extended Consanguineous Family With Severe Early-Onset Obesity." European Journal of Medical Genetics 61, no. 8 (2018): 465-467.
Harvard	Dehghani MR et al. (2018) 'Potential Role of Gender Specific Effect of Leptin Receptor Deficiency in an Extended Consanguineous Family With Severe Early-Onset Obesity', European Journal of Medical Genetics, 61(8), pp. 465-467.
Vancouver	Dehghani MR, Mehrjardi MYV, Dilaver N, Tajamolian M, Enayati S, Ebrahimi P, et al.. Potential Role of Gender Specific Effect of Leptin Receptor Deficiency in an Extended Consanguineous Family With Severe Early-Onset Obesity. European Journal of Medical Genetics. 2018;61(8):465-467.
BibTex	@article{ author = {Dehghani MR and Mehrjardi MYV and Dilaver N and Tajamolian M and Enayati S and Ebrahimi P and Amoli MM and Farooqi S and Maroofian R}, title = {Potential Role of Gender Specific Effect of Leptin Receptor Deficiency in an Extended Consanguineous Family With Severe Early-Onset Obesity}, journal = {European Journal of Medical Genetics}, volume = {61}, number = {8}, pages = {465-467}, year = {2018} }
RIS	TY - JOUR AU - Dehghani MR AU - Mehrjardi MYV AU - Dilaver N AU - Tajamolian M AU - Enayati S AU - Ebrahimi P AU - Amoli MM AU - Farooqi S AU - Maroofian R TI - Potential Role of Gender Specific Effect of Leptin Receptor Deficiency in an Extended Consanguineous Family With Severe Early-Onset Obesity JO - European Journal of Medical Genetics VL - 61 IS - 8 SP - 465 EP - 467 PY - 2018 ER -

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