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Comment
. 2024 Mar;32(3):257-259.
doi: 10.1038/s41431-023-01506-6. Epub 2023 Dec 8.

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

Maeve Bradley  1 , Robert H Field  2 , Michael O'Rourke  3 , John Stoke  4 , Sinéad M Murphy  2   5 , Hugh Kearney  6   5
Affiliations
Comment

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

Maeve Bradley et al. Eur J Hum Genet. 2024 Mar.
No abstract available

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Representative images of the phenotypic features in this case of a patient with a variant in SIN3A.
A and B showing facial features of small mouth and enlargement of forehead, C axial T2-weighted MRI brain with enlargement of the lateral ventricles and preservation of the corpus callosum, D and E representative images of photosensitive rash diagnosed on biopsy as pitrysis rubra pilaris, F brachydactyly.
See this image and copyright information in PMC

Comment on

  • Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
    Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB, Fry AE, Ragge N, Sharif S, Foster A, De Sandre-Giovannoli A, Elouej S, Vasudevan P, Mansour S, Wilson K, Stewart H, Heide S, Nava C, Keren B, Demirdas S, Brooks AS, Vincent M, Isidor B, Küry S, Schouten M, Leenders E, Chung WK, Haeringen AV, Scheffner T, Debray FG, White SM, Palafoll MIV, Pfundt R, Newbury-Ecob R, Kleefstra T. Balasubramanian M, et al. Eur J Hum Genet. 2021 Apr;29(4):625-636. doi: 10.1038/s41431-020-00769-7. Epub 2021 Jan 12. Eur J Hum Genet. 2021. PMID: 33437032 Free PMC article.

References

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