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Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement

European Journal of Human Genetics volume 32, pages 257–259 (2024)Cite this article

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The Original Article was published on 12 January 2021

In response to the study by Balasubramanian et al., of 28 individuals with variants in SIN3A, we present the first Irish cases of SIN3A-related disorder diagnosed in adulthood with mild neurodevelopmental phenotype and multisystem involvement [1]. We believe the features in our cases expand the phenotype of this rare condition to include congenital myopathy, hypogonadotropic hypogonadism and skin involvement. Written consent was obtained for publication of cases and included pictures.

A 34-year male was referred to neurology outpatients with whole body pain and headaches. There were no craniofacial abnormalities noted as a neonate. Motor developmental delay was evident with ataxia and hypotonia in early childhood. Additionally, speech delay required input from speech therapy. Intellectual development was normal, with completion of mainstream schooling and third level qualification.

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Fig. 1: Representative images of the phenotypic features in this case of a patient with a variant in SIN3A.

Data availability

Data sharing not applicable to this article as no datasets were generated or analysed during the current study. Case one variant ClinVar; accession number VCV002498622.5, https://www.ncbi.nlm.nih.gov/clinvar/variation/2498622/?oq=sin3a[gene]+NM_001145358.2:c.3025C%3ET&m=NM_001145358.2(SIN3A):c.3025C%3ET%20(p.Gln1009Ter). Case two variant LOVD; variant ID is #0000935135, https://databases.lovd.nl/shared/variants/0000935135#00025859.

References

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Acknowledgements

The authors thank the patients and their families for their contribution to this study. One of the authors of this publication is a member of the European Reference Network for Rare Neurological Diseases - Project ID No 739510.

Funding

No specific funding was received for this study.

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Authors and Affiliations

  1. Department of Neurology, St James’s Hospital, Dublin, Ireland

    Maeve Bradley & Hugh Kearney

  2. Department of Neurology, Tallaght University Hospital, Dublin, Ireland

    Robert H. Field & Sinéad M. Murphy

  3. Department of Ophthalmology, St James’s Hospital, Dublin, Ireland

    Michael O’Rourke

  4. Department of Ophthalmology, Waterford University Hospital, Waterford, Ireland

    John Stoke

  5. Academic Unit of Neurology, School of Medicine, Trinity College Dublin, Dublin, Ireland

    Sinéad M. Murphy & Hugh Kearney

Authors
  1. Maeve Bradley
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  2. Robert H. Field
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  3. Michael O’Rourke
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  4. John Stoke
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  5. Sinéad M. Murphy
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  6. Hugh Kearney
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Contributions

MB: Clinical phenotyping of patient 1 and writing of the manuscript. RF: Clinical phenotyping of patient 2 and writing of the manuscript. SM: clinical overview of patient 2 and editing of manuscript. HK: clinical overview of patient 1 and editing of manuscript.

Corresponding author

Correspondence to Maeve Bradley.

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The authors declare no competing interests.

Ethical approval

Ethical approval was not required for case reporting. Written informed consent for blood sampling for genetic testing was obtained as part of the diagnostic protocol. Written informed consent for scientific publication including of pictures was also obtained.

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Bradley, M., Field, R.H., O’Rourke, M. et al. Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement. Eur J Hum Genet 32, 257–259 (2024). https://doi.org/10.1038/s41431-023-01506-6

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  • DOI: https://doi.org/10.1038/s41431-023-01506-6

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