prikaz prve stranice dokumenta The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)
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Scientific paper - Original scientific paper
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)
Human Mutation, 42 (2021), 4; 473-486. https://doi.org/10.1002/humu.24182
Franken, Gijs A. C.; Müller, Dominik; Mignot, Cyril; Keren, Boris; Lévy, Jonathan; Tabet, Anne‐Claude; Germanaud, David; Tejada, María‐Isabel; Kroes, Hester Y.; Nievelstein, Rutger A. J.; Brimble, Elise; Ruzhnikov, Maria; Claverie‐Martin, Felix; Szczepańska, Maria; Ćuk, Martin; Latta, Femke; Konrad, Martin; Martínez‐Cruz, Luis A.; Bindels, René J. M.; Hoenderop, Joost G. J.; Schlingmann, Karl‐Peter; Baaij, Jeroen H. F. More authors...

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Franken, G. A. C., Müller, D., Mignot, C., Keren, B., Lévy, J., Tabet, A. ... Baaij, J. H. F. (2021). The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2). Human Mutation, 42. (4), 473-486. doi: 10.1002/humu.24182

Franken, Gijs A. C., et al. "The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)." Human Mutation, vol. 42, no. 4, 2021, pp. 473-486. https://doi.org/10.1002/humu.24182

Franken, Gijs A. C., Dominik Müller, Cyril Mignot, Boris Keren, Jonathan Lévy, Anne‐Claude Tabet, David Germanaud, et al. "The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)." Human Mutation 42, no. 4 (2021): 473-486. https://doi.org/10.1002/humu.24182

Franken, G. A. C., et al. (2021) 'The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)', Human Mutation, 42(4), pp. 473-486. doi: 10.1002/humu.24182

Franken GAC, Müller D, Mignot C, Keren B, Lévy J, Tabet A, and sur.. The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2). Human Mutation [Internet]. 2021 April [cited 2024 December 22];42(4):473-486. doi: 10.1002/humu.24182

G. A. C. Franken, et al., "The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)", Human Mutation, vol. 42, no. 4, pp. 473-486, April 2021. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:417586. [Accessed: 22 December 2024]

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Metadata
Title (english)The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)
AuthorGijs A. C. Franken
AuthorDominik Müller
AuthorCyril Mignot
AuthorBoris Keren
AuthorJonathan Lévy
AuthorAnne‐Claude Tabet
AuthorDavid Germanaud
AuthorMaría‐Isabel Tejada
AuthorHester Y. Kroes
AuthorRutger A. J. Nievelstein
AuthorElise Brimble
AuthorMaria Ruzhnikov
AuthorFelix Claverie‐Martin
AuthorMaria Szczepańska
AuthorMartin Ćuk
AuthorFemke Latta
AuthorMartin Konrad
AuthorLuis A. Martínez‐Cruz
AuthorRené J. M. Bindels
AuthorJoost G. J. Hoenderop
AuthorKarl‐Peter Schlingmann
AuthorJeroen H. F. Baaij
Author's institutionUniversity of Zagreb
School of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract (english)
Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited number of cases, extensive phenotype analyses of these patients have not been performed, hindering early recognition of patients. In this study, we established the largest cohort of HSMR to date, aiming to improve recognition and diagnosis of this complex disorder. Eleven novel variants in CNNM2 were identified in nine single sporadic cases and in two families with suspected HSMR syndrome. 25 Mg2+ uptake assays demonstrated loss-of-function in seven out of nine variants in CNNM2. Interestingly, the pathogenic mutations resulted in decreased plasma membrane expression. The phenotype of those affected by pathogenic CNNM2 mutations was compared with five previously reported cases of HSMR. All patients suffered from hypomagnesemia (0.44-0.72 mmol/L), which could not be fully corrected by Mg2+ supplementation. The majority of patients (77%) experienced generalized seizures and exhibited mild to moderate intellectual disability and speech delay. Moreover, severe obesity was present in most patients (89%). Our data establish hypomagnesemia, seizures, intellectual disability, and obesity as hallmarks of HSMR syndrome. The assessment of these major features offers a straightforward tool for the clinical diagnosis of HSMR.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleHuman Mutation
Numberingvol. 42, no. 4, pp. 473-486
p-ISSN1059-7794
e-ISSN1098-1004
DOIhttps://doi.org/10.1002/humu.24182
URN:NBNurn:nbn:hr:105:417586
Publication2021-04
Document URLhttps://onlinelibrary.wiley.com/doi/10.1002/humu.24182
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) icon
Created on2021-10-12 07:20:21