Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review (2024)

Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review (1)

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Neurogenetics

Original research

Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review

  1. http://orcid.org/0000-0003-1810-2331Chujun Wu1,2,
  2. Zaiqiang Zhang1,2
  1. 1Department of Neurology, Capital Medical University, Beijing Tiantan Hospital, Beijing, China
  2. 2China National Clinical Research Center for Neurological Disease, Capital Medical University, Beijing Tiantan Hospital, Beijing, China
  1. Correspondence to Professor Zaiqiang Zhang, Department of Neurology, Capital Medical University, Beijing Tiantan Hospital, Beijing, China; ttyy0142011{at}126.com

Abstract

Background Cases of RNF216-related disorder have been reported sporadically. However, the clinical and genetic spectrum of this disorder has not been fully studied.

Methods We identified an individual with a novel causative RNF216 variant in our institution and reviewed all individuals with causative RNF216 variants in previous reports. The clinical and genetic features of all the described individuals were analysed and summarised.

Results Twenty-four individuals from 17 families with causative RNF216 variants were identified. The mean age at the onset of neurological symptoms was 29.2 years (range 18–49 years). Ataxia (57%) was the most frequent initial symptoms in individuals under 30 years old, while chorea (63%) was the most frequent initial symptom in individuals over 30 years old. Over 90% of individuals presented with cognitive impairment and hypogonadotropic hypogonadism throughout the disease. White matter lesions (96%) and cerebellar atrophy (92%) were the most common imaging findings. Twenty pathogenic variants in RNF216 were detected. The variants in 12 (71%) families were inherited in a monogenic recessive pattern, whereas the variants in 5 (29%) were inherited in a digenic pattern by acting with variants in other genes. The majority of the RNF216 variants (85%) resulted in amino acid changes or the truncation of the ‘RING between RING’ (RBR) domain or C-terminal extension.

Conclusion RNF216-related disorder is an inherited neuroendocrine disease characterised by cerebellar ataxia, chorea, cognitive impairment and hypogonadotropic hypogonadism. Most causative variants in patients with RNF216-related disorder influence the RBR domain or C-terminal extension of RNF216.

  • Neurology
  • Genetic Heterogeneity
  • Phenotype
  • Genotype
  • Endocrine System Diseases

Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

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    • Neurology
    • Genetic Heterogeneity
    • Phenotype
    • Genotype
    • Endocrine System Diseases

    Data availability statement

    All data relevant to the study are included in the article or uploaded as supplementary information.

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    Footnotes

    • Contributors Conceptualisation: CW, ZZ; Data curation: CW, ZZ; Formal analysis: CW; Investigation: CW, ZZ; Methodology: CW; Resources: ZZ, CW; Software: CW; Supervision: ZZ; Visualisation: CW: Writing of the original draft: CW; Writing of the review and editing: ZZ, CW; Guarantor: ZZ.

    • Funding This study was supported by grants from the National Natural Science Foundation of China (NO.82271903).

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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    Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review (2024)
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