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Case Reports
. 2024 Dec;194(12):e63836.
doi: 10.1002/ajmg.a.63836. Epub 2024 Aug 16.

CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus

Amaro Freire de Queiroz Júnior  1 , Maria Teresa Vieira Sanseverino  1   2 , Marcus Vinicius Martins Collares  3 , Adriana Fornari  4 , Luiza Amaral do Virmond  5 , João Bosco Oliveira Filho  5 , Osvaldo Artigalás  1   6 , Têmis Maria Félix  1   7
Affiliations
Case Reports

CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus

Amaro Freire de Queiroz Júnior et al. Am J Med Genet A. 2024 Dec.

Abstract

Holoprosencephaly (HPE) results from a lack of cleavage of the prosencephalon. It has a complex etiology, resulting from chromosome abnormalities or single gene variants in the Sonic hedgehog signaling pathway. A single variant, p.Arg535Cys in CNOT1, has been described in HPE in association with pancreatic agenesis and neonatal diabetes. Here, we report on a case of HPE and p.Arg535Cys in CNOT1 without pancreatic agenesis where the patient presented with diabetes mellitus in adolescence. This case reinforces the role of CNOT1 in pancreatic development. We suggest that individuals with p.Arg535Cys in CNOT1 with no pancreas abnormalities observed at birth should be screened for diabetes during follow-up.

Keywords: CNOT1 gene; diabetes mellitus; holoprosencephaly.

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References

REFERENCES

    1. Apelqvist, A., Ahlgren, U., & Edlund, H. (1997). Sonic hedgehog directs specialised mesoderm differentiation in the intestine and pancreas. Current Biology, 7, 801–804. https://doi.org/10.1016/s0960-9822(06)00340-x
    1. Bartlam, M., & Yamamoto, T. (2010). The structural basis for deadenylation by the CCR4‐NOT complex. Protein & Cell, 1, 443–452. https://doi.org/10.1007/s13238-010-0060-8
    1. Chen, C., Ito, K., Takahashi, A., Wang, G., Suzuki, T., Nakazawa, T., Yamamoto, T., & Yokoyama, K. (2011). Distinct expression patterns of the subunits of the CCR4‐NOT deadenylase complex during neural development. Biochemical and Biophysical Research Communications, 411, 360–364. https://doi.org/10.1016/j.bbrc.2011.06.148
    1. Coelho, A. V. C., Mascaro‐Cordeiro, B., Lucon, D. R., Nóbrega, M. S., Reis, R. S., Alexandre, R. B., Moura, L. M. S., Oliveira, G. S., Guedes, R. L. M., Caraciolo, M. P., Zurro, N. B., Cervato, M. C., & Oliveira, J. B. (2022). The Brazilian rare genomes project: Validation of whole genome sequencing for rare diseases diagnosis. Frontiers in Molecular Biosciences, 9, 821582. https://doi.org/10.3389/fmolb.2022.821582
    1. Cospain, A., Faoucher, M., Cauchois, A., Carre, W., Quelin, C., & Dubourg, C. (2022). Fetal description of the pancreatic agenesis and holoprosencephaly syndrome associated to a specific CNOT1 variant. Pediatric and Developmental Pathology, 25, 548–552. https://doi.org/10.1177/10935266221095305

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