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. 2023 Nov;104(5):607-609.
doi: 10.1111/cge.14408. Epub 2023 Jul 25.

Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome

Newell Belnap  1   2 , Aiai Price-Smith  1 , Keri Ramsey  1   2 , Kamawela Leka  1 , Anna Abraham  1 , Emma Lieberman  1 , Katie Hassett  1 , Sai Potu  1 , Natasha Rudy  3 , Kirstin Smith  3 , Fady M Mikhail  3 , Kirstin G Monaghan  4 , Andrea Hendershot  4 , Jeroen Mourmans  5 , Maria Descartes  3 , Matthew J Huentelman  1   2 , Jennifer Sills  6 , Sampath Rangasamy  1   2 , Vinodh Narayanan  1   2
Affiliations

Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome

Newell Belnap et al. Clin Genet. 2023 Nov.

Abstract

Pedigree showing the autosomal dominant inheritance pattern of CSNK21 variants in families presenting with OCNDS. (A) Maternal inheritance to two daughters in Family 1, (B) Paternal inheritance to a daughter in Family 2, and (C) Maternal inheritance to two sons in Family 3.

Keywords: CSNK2A1; Okur-Chung neurodevelopmental syndrome; casein kinase 2; inherited variants; variable expressivity.

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References

REFERENCES

    1. Okur V, Cho MT, Henderson L, et al. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Hum Genet. 2016;135:699-705. doi:10.1007/s00439-016-1661-y
    1. Jafari Khamirani H, Zoghi S, Motealleh A, et al. Clinical features of Okur-Chung neurodevelopmental syndrome: case report and literature review. Mol Syndromol. 2022;13:381-388.
    1. Chung W, Okur V. Okur-Chung neurodevelopmental syndrome. In: Adam MP, Mirzaa GM, Pagon RA, et al., eds. GeneReviews®. University of Washington; 2022.
    1. Chiu ATG, Pei SLC, Mak CCY, et al. Okur-Chung neurodevelopmental syndrome: eight additional cases with implications on phenotype and genotype expansion. Clin Genet. 2018;93:880-890.
    1. Xu S, Lian Q, Wu J, Li L, Song J. Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report. BMC Med Genet. 2020;21:158.

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