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Case Reports
. 2023 May;191(5):1425-1429.
doi: 10.1002/ajmg.a.63149. Epub 2023 Feb 22.

Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia

Shivarajan M Amudhavalli  1   2 , V Paolillo  3 , Caitlin Lawson  1   3 , Melanie Patterson  3 , J Kussmann  1   2 , A J Nopper  2   4 , M Lypka  1   2 , Carol Saunders  2   3
Affiliations
Case Reports

Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia

Shivarajan M Amudhavalli et al. Am J Med Genet A. 2023 May.

Abstract

Variants in genes encoding core components of the spliceosomes are associated with craniofacial syndromes, collectively called craniofacial spliceosomopathies. SNRPE encodes a core component of pre-mRNA processing U-rich small nuclear ribonuclear proteins (UsnRNPs). Heterozygous variants in SNRPE have been reported in six families with isolated hypotrichosis simplex in addition to one case of isolated non syndromic congenital microcephaly. Here, we report a patient with a novel blended phenotype of microcephaly and congenital atrichia with multiple congenital anomalies due to a de novo intronic SNRPE deletion, c.82-28_82-16del, which results in exon skipping. As discussed within, this phenotype, which we propose be named SNRPE-related syndromic microcephaly and hypotrichosis, overlaps other craniofacial splicesosomopathies.

Keywords: SNRPE; atrichia; microcephaly; multiple congenital anomalies; spliceosomes; spliceosomopathy.

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References

REFERENCES

    1. Beauchamp, M. C., Alam, S. S., Kumar, S., & Jerome-Majewska, L. A. (2020). Spliceosomopathies and neurocristopathies: Two sides of the same coin? Developmental Dynamics, 249(8), 924-945. https://doi.org/10.1002/dvdy.183
    1. Chen, T., Zhang, B., Ziegenhals, T., Prusty, A. B., Frohler, S., Grimm, C., Hu, Y., Schaefke, B., Fang, L., Zhang, M., Kraemer, N., Kaindl, A. M., Fischer, U., & Chen, W. (2019). A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing. PLoS Genetics, 15(10), e1008460. https://doi.org/10.1371/journal.pgen.1008460
    1. Griffin, C., & Saint-Jeannet, J. P. (2020). Spliceosomopathies: Diseases and mechanisms. Developmental Dynamics, 249(9), 1038-1046. https://doi.org/10.1002/dvdy.214
    1. Lines, M. A., Huang, L., Schwartzentruber, J., Douglas, S. L., Lynch, D. C., Beaulieu, C., Guion-Almeida, M. L., Zechi-Ceide, R. M., Gener, B., Gillessen-Kaesbach, G., Nava, C., Baujat, G., Horn, D., Kini, U., Caliebe, A., Alanay, Y., Utine, G. E., Lev, D., Kohlhase, J., … Boycott, K. M. (2012). Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. American Journal of Human Genetics, 90(2), 369-377. https://doi.org/10.1016/j.ajhg.2011.12.023
    1. Nilsen, T. W. (2003). The spliceosome: The most complex macromolecular machine in the cell? BioEssays, 25(12), 1147-1149. https://doi.org/10.1002/bies.10394

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