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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