Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.
CK2α
CSNK2A1
Okur–Chung neurodevelopmental syndrome
genotype–phenotype correlation
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
06 May 2024
06 May 2024
Historique:
revised:
07
04
2024
received:
05
03
2024
accepted:
11
04
2024
medline:
7
5
2024
pubmed:
7
5
2024
entrez:
7
5
2024
Statut:
aheadofprint
Résumé
The autosomal dominant Okur-Chung neurodevelopmental syndrome (OCNDS: OMIM #617062) is a rare neurodevelopmental disorder first described in 2016. Features include developmental delay (DD), intellectual disability (ID), behavioral problems, hypotonia, language deficits, congenital heart abnormalities, and non-specific dysmorphic facial features. OCNDS is caused by heterozygous pathogenic variants in CSNK2A1 (OMIM *115440; NM_177559.3). To date, 160 patients have been diagnosed worldwide. The number will likely increase due to the growing use of exome sequencing (ES) and genome sequencing (GS). Here, we describe a novel OCNDS patient carrying a CSNK2A1 variant (NM_177559.3:c.140G>A; NP_808227.1:p.Arg47Gln). Phenotypically, he presented with DD, ID, generalized hypotonia, speech delay, short stature, microcephaly, and dysmorphic features such as low-set ears, hypertelorism, thin upper lip, and a round face. The patient showed several signs not yet described that may extend the phenotypic spectrum of OCNDS. These include prenatal bilateral clubfeet, exotropia, and peg lateral incisors. However, unlike the majority of descriptions, he did not present sleep disturbance, seizures or gait difficulties. A literature review shows phenotypic heterogeneity for OCNDS, whether these patients have the same variant or not. This case report is an opportunity to refine the phenotype of this syndrome and raise the question of the genotype-phenotype correlation.
Identifiants
pubmed: 38711237
doi: 10.1002/ajmg.a.63642
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
e63642Informations de copyright
© 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
Références
Akahira‐Azuma, M., Tsurusaki, Y., Enomoto, Y., Mitsui, J., & Kurosawa, K. (2018). Refining the clinical phenotype of Okur‐Chung neurodevelopmental syndrome. Human Genome Variation, 29(5), 18011. https://doi.org/10.1038/hgv.2018.11
Belnap, N., Price‐Smith, A., Ramsey, K., Leka, K., Abraham, A., Lieberman, E., Hassett, K., Potu, S., Rudy, N., Smith, K., Mikhail, F. M., Monaghan, K. G., Hendershot, A., Mourmans, J., Descartes, M., Huentelman, M. J., Sills, J., Rangasamy, S., & Narayanan, V. (2023). Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome. Clinical Genetics, 104, 607–609. https://doi.org/10.1111/cge.14408
Chiu, A. T. G., Pei, S. L. C., Mak, C. C. Y., Leung, G. K. C., Yu, M. H. C., Lee, S. L., Vreeburg, M., Pfundt, R., van der Burgt, I., Kleefstra, T., Frederic, T. M., Nambot, S., Faivre, L., Bruel, A. L., Rossi, M., Isidor, B., Küry, S., Cogne, B., Besnard, T., … Chung, B. H. Y. (2018). Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. Clinical Genetics, 93(4), 880–890. https://doi.org/10.1111/cge.13196
Colavito, D., Del Giudice, E., Ceccato, C., Carbonare, M. D., Leon, A., & Suppiej, A. (2018). Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation. Journal of Human Genetics, 63, 779–781. https://doi.org/10.1038/s10038-018-0434-y
Duan, H. L., Peng, J., Pang, N., Chen, S. M., Xiong, J., Guang, S. Q., & Yin, F. (2019). A case of Okur‐Chung syndrome caused by CSNK2A1 gene variation and review of literature. Zhonghua Er Ke Za Zhi, 57(5), 368–372. https://doi.org/10.3760/cma.j.issn.0578-1310.2019.05.010
Jafari Khamirani, H., Zoghi, S., Motealleh, A., Dianatpour, M., Tabei, S. M. B., Mohammadi, S., & Dastgheib, S. A. (2022). Clinical features of Okur‐Chung neurodevelopmental syndrome: Case report and literature review. Mol Syndromol, 13(5), 381–388. https://doi.org/10.1159/000522353
Martinez‐Monseny, A. F., Casas‐Alba, D., Arjona, C., Bolasell, M., Casano, P., Muchart, J., Ramos, F., Martorell, L., Palau, F., García‐Alix, A., & Serrano, M. (2020). Okur‐Chung neurodevelopmental syndrome in a patient from Spain. American Journal of Medical Genetics. Part A, 182(1), 20–24. https://doi.org/10.1002/ajmg.a.61405
Nakashima, M., Tohyama, J., Nakagawa, E., Watanabe, Y., Siew, C. G., Kwong, C. S., Yamoto, K., Hiraide, T., Fukuda, T., Kaname, T., Nakabayashi, K., Hata, K., Ogata, T., Saitsu, H., & Matsumoto, N. (2019). Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. Journal of Human Genetics, 64(4), 313–322. https://doi.org/10.1038/s10038-018-0559-z
Niefind, K., Guerra, B., Ermakowa, I., & Issinger, O. G. (2001). Crystal structure of human protein kinase CK2: Insights into basic properties of the CK2 holoenzyme. The EMBO Journal, 20(19), 5320–5331. https://doi.org/10.1093/emboj/20.19.5320
Okur, V., Cho, M. T., Henderson, L., Retterer, K., Schneider, M., Sattler, S., Niyazov, D., Azage, M., Smith, S., Picker, J., Lincoln, S., Tarnopolsky, M., Brady, L., Bjornsson, H. T., Applegate, C., Dameron, A., Willaert, R., Baskin, B., Juusola, J., & Chung, W. K. (2016). De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Human Genetics, 135(7), 699–705. https://doi.org/10.1007/s00439-016-1661-y
Owen, C. I., Bowden, R., Parker, M. J., Patterson, J., Patterson, J., Price, S., Sarkar, A., Castle, B., Deshpande, C., Splitt, M., Ghali, N., Dean, J., Green, A. J., Crosby, C., Deciphering Developmental Disorders Study, & Tatton‐Brown, K. (2018). Extending the phenotype associated with the CSNK2A1‐related Okur‐Chung syndrome—A clinical study of 11 individuals. American Journal of Medical Genetics. Part A, 176(5), 1108–1114. https://doi.org/10.1002/ajmg.a.38610
Seo, G. H., Kim, T., Choi, I. H., Park, J.‐Y., Lee, J., Kim, S., Won, D. G., Oh, A., Lee, Y., Choi, J., Lee, H., Kang, H. G., Cho, H. Y., Cho, M. H., Kim, Y. J., Yoon, Y. H., Eun, B.‐L., Desnick, R. J., Keum, C., & Lee, B. H. (2020). Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE. Clinical Genetics, 98, 562–570.
Trinh, J., Hüning, I., Budler, N., Hingst, V., Lohmann, K., & Gillessen‐Kaesbach, G. (2017). A novel de novo mutation in CSNK2A1: Reinforcing the link to neurodevelopmental abnormalities and dysmorphic features. Journal of Human Genetics, 62(11), 1005–1006. https://doi.org/10.1038/jhg.2017.73
Wu, R., Tang, W., Liang, L., Li, X., Ouyang, N., & Meng, Z. (2020). Identification of a novel de novo variant of CSNK2A1 gene in a boy with Okur‐Chung neurodevelopmental syndrome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 37(6), 641–644. Chinese. https://doi.org/10.3760/cma.j.issn.1003-9406.2020.06.011
Wu, R. H., Tang, W. T., Qiu, K. Y., Li, X. J., Tang, D. X., Meng, Z., & He, Z. W. (2021 May). Identification of novel CSNK2A1 variants and the genotype‐phenotype relationship in patients with Okur‐Chung neurodevelopmental syndrome: A case report and systematic literature review. The Journal of International Medical Research, 49(5), 3000605211017063. https://doi.org/10.1177/03000605211017063
Zhao, Q. Q., Wei, H., & Hu, Y. (2023 (New Series)). Okur‐Chung neurodevelopmental syndrome: A case report in one Chinese neonate and review of literature. Hong Kong Journal of Paediatrics, 28(1), 31.