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

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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,[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,


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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.


No specific funding was received for this study.

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Authors and Affiliations



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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Competing interests

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 (2023).

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