E-ISSN 2534-9821
 

Case Report

Online Publishing Date:
24 / 01 / 2022

 


MYT1L duplication in a Portuguese patient with intellectual disability and obesity

Lorena Stella, Joana Tenente, Rita Quental, Helena Santos, Miguel Leo.


Abstract
Obesity has become one of the major health risks worldwide. The role of the central nervous system (CNS) in the development of monogenic and syndromic obesity is still not entirely characterized. Over the last decade, pathogenic variants involving the MYTL1 gene, which has functions in hypothalamic neurogenesis, have been described as causing a nonspecific clinical phenotype that commonly includes intellectual disability (ID), early onset of obesity and speech delay. Here, we report the case of a Portuguese patient carrying duplications involving the MYT1L gene.

Key words: hyperphagia, infancy-onset obesity, intellectual disability, speech delay, MYT1L


 
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How to Cite this Article
Pubmed Style

Stella L, Tenente J, Quental R, Santos H, Leo M. MYT1L duplication in a Portuguese patient with intellectual disability and obesity. Int J Med Rev Case Rep. 2022; 6(2): 50-52. doi:10.5455/IJMRCR.MYT1LduplicationinaPortuguesepatientwithintellectualdisabilityandobesity


Web Style

Stella L, Tenente J, Quental R, Santos H, Leo M. MYT1L duplication in a Portuguese patient with intellectual disability and obesity. https://www.mdpub.net/?mno=140417 [Access: May 31, 2024]. doi:10.5455/IJMRCR.MYT1LduplicationinaPortuguesepatientwithintellectualdisabilityandobesity


AMA (American Medical Association) Style

Stella L, Tenente J, Quental R, Santos H, Leo M. MYT1L duplication in a Portuguese patient with intellectual disability and obesity. Int J Med Rev Case Rep. 2022; 6(2): 50-52. doi:10.5455/IJMRCR.MYT1LduplicationinaPortuguesepatientwithintellectualdisabilityandobesity



Vancouver/ICMJE Style

Stella L, Tenente J, Quental R, Santos H, Leo M. MYT1L duplication in a Portuguese patient with intellectual disability and obesity. Int J Med Rev Case Rep. (2022), [cited May 31, 2024]; 6(2): 50-52. doi:10.5455/IJMRCR.MYT1LduplicationinaPortuguesepatientwithintellectualdisabilityandobesity



Harvard Style

Stella, L., Tenente, . J., Quental, . R., Santos, . H. & Leo, . M. (2022) MYT1L duplication in a Portuguese patient with intellectual disability and obesity. Int J Med Rev Case Rep, 6 (2), 50-52. doi:10.5455/IJMRCR.MYT1LduplicationinaPortuguesepatientwithintellectualdisabilityandobesity



Turabian Style

Stella, Lorena, Joana Tenente, Rita Quental, Helena Santos, and Miguel Leo. 2022. MYT1L duplication in a Portuguese patient with intellectual disability and obesity. International Journal of Medical Reviews and Case Reports, 6 (2), 50-52. doi:10.5455/IJMRCR.MYT1LduplicationinaPortuguesepatientwithintellectualdisabilityandobesity



Chicago Style

Stella, Lorena, Joana Tenente, Rita Quental, Helena Santos, and Miguel Leo. "MYT1L duplication in a Portuguese patient with intellectual disability and obesity." International Journal of Medical Reviews and Case Reports 6 (2022), 50-52. doi:10.5455/IJMRCR.MYT1LduplicationinaPortuguesepatientwithintellectualdisabilityandobesity



MLA (The Modern Language Association) Style

Stella, Lorena, Joana Tenente, Rita Quental, Helena Santos, and Miguel Leo. "MYT1L duplication in a Portuguese patient with intellectual disability and obesity." International Journal of Medical Reviews and Case Reports 6.2 (2022), 50-52. Print. doi:10.5455/IJMRCR.MYT1LduplicationinaPortuguesepatientwithintellectualdisabilityandobesity



APA (American Psychological Association) Style

Stella, L., Tenente, . J., Quental, . R., Santos, . H. & Leo, . M. (2022) MYT1L duplication in a Portuguese patient with intellectual disability and obesity. International Journal of Medical Reviews and Case Reports, 6 (2), 50-52. doi:10.5455/IJMRCR.MYT1LduplicationinaPortuguesepatientwithintellectualdisabilityandobesity