Hormonal
A ~187 kb microdeletion of the HBII-85 snoRNA cluster on chromosome 15q11-13 causes hyperphagia, severe obesity, and hypogonadism in humans.
This paper identifies a specific genetic cause for severe obesity and hyperphagia. For individuals with a confirmed HBII-85 deletion, standard dietary advice may be insufficient due to biological hyperphagia. Management requires specialized medical and endocrine support rather than standard lifestyle interventions alone.
We have identified a novel deletion on chromosome 15q11 – 13 in an individual with hyperphagia, obesity, hypogonadism and other features associated with PWS... These findings provide direct evidence for the role of a particular family of non-coding RNAs, the HBII-85 snoRNA cluster, in human energy homeostasis, growth and reproduction.
Why this rating
Single case study (n=1) with detailed phenotyping and genetic validation; strong causal link but lacks population generalizability.
Source
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism
Adam J. de Smith et al. · Human Molecular Genetics · 2009
DOI 10.1093/hmg/ddp263
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