prikaz prve stranice dokumenta The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)
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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. Više autora...

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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, br. 4, 2021, str. 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, br. 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), str. 473-486. doi: 10.1002/humu.24182

Franken GAC, Müller D, Mignot C, Keren B, Lévy J, Tabet A, i sur.. The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2). Human Mutation [Internet]. 04.2021. [pristupljeno 11.04.2024.];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, br. 4, str. 473-486, Travanj 2021. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:417586. [Citirano: 11.04.2024.]

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Naslov (engleski)The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)
AutorGijs A. C. Franken
AutorDominik Müller
AutorCyril Mignot
AutorBoris Keren
AutorJonathan Lévy
AutorAnne‐Claude Tabet
AutorDavid Germanaud
AutorMaría‐Isabel Tejada
AutorHester Y. Kroes
AutorRutger A. J. Nievelstein
AutorElise Brimble
AutorMaria Ruzhnikov
AutorFelix Claverie‐Martin
AutorMaria Szczepańska
AutorMartin Ćuk
AutorFemke Latta
AutorMartin Konrad
AutorLuis A. Martínez‐Cruz
AutorRené J. M. Bindels
AutorJoost G. J. Hoenderop
AutorKarl‐Peter Schlingmann
AutorJeroen H. F. Baaij
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PEDIJATRIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Pedijatrija
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaHuman Mutation
Brojčani podacivol. 42, br. 4, str. 473-486
p-ISSN1059-7794
e-ISSN1098-1004
DOIhttps://doi.org/10.1002/humu.24182
URN:NBNurn:nbn:hr:105:417586
Datum objave publikacije2021-04
URL dokumentahttps://onlinelibrary.wiley.com/doi/10.1002/humu.24182
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje-Nekomercijalno-Bez prerada 4.0 međunarodna (CC BY-NC-ND 4.0)
Datum i vrijeme pohrane2021-10-12 07:20:21