RNF216 Variants Found in Patients With Dementia, Hypogonadotropic Hypogonadism, and Severe Ataxia Deregulate Autophagy
Authors' conclusion
Our results suggest that alteration of RNF216 function leads to cell death through an autophagy-mediated mechanism which contributes to combined HH and ataxia and dementia in affected patients.
Study context
- Population
- Patients with hypogonadotropic hypogonadism (HH) (monocentric cohort)
- Participants
- 1,476 patients
- Outcome
- Prevalence of RNF216 mutations in patients with HH; impact on autophagy of identified RNF216 pathogenic variants
Methodological detailsexome analysis, monocentric cohort, in vitro functional analysis
- Exome analysis
- Monocentric cohort
- In vitro functional analysis
Main finding
As reported in the abstract
Unique homozygous NM_207111.4:c.2056C>T:p.(Arg686*) RNF216 variant in one family with 2 affected patients presenting with HH, late-onset ataxia and dementia
1 family; 2 patients
Original publication
RNF216 Variants Found in Patients With Dementia, Hypogonadotropic Hypogonadism, and Severe Ataxia Deregulate Autophagy. J Clin Endocrinol Metab. Published 21 November 2025. doi:10.
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