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A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function
Molecular Genetics & Genomic Medicine, 4 (2016), 5; 557-567. https://doi.org/10.1002/mgg3.234
Dreßen, Martina; Lahm, Harald; Lahm, Armin; Wolf, Klaudia; Doppler, Stefanie; Deutsch, Marcus-André; Cleuziou, Julie; Pabst von Ohain, Jelena; Schön, Patric; Ewert, Peter; Malčić, Ivan; Lange, Rüdiger; Krane, Markus

Institucijski repozitorij: Dr Med - digitalni repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

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Dreßen, M., Lahm, H., Lahm, A., Wolf, K., Doppler, S., Deutsch, M. A. ... Krane, M. (2016). A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function. Molecular Genetics & Genomic Medicine, 4. (5), 557-567. doi: 10.1002/mgg3.234

Dreßen, Martina, et al. "A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function." Molecular Genetics & Genomic Medicine, vol. 4, br. 5, 2016, str. 557-567. https://doi.org/10.1002/mgg3.234

Dreßen, Martina, Harald Lahm, Armin Lahm, Klaudia Wolf, Stefanie Doppler, Marcus André Deutsch, Julie Cleuziou, et al. "A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function." Molecular Genetics & Genomic Medicine 4, br. 5 (2016): 557-567. https://doi.org/10.1002/mgg3.234

Dreßen, M., et al. (2016) 'A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function', Molecular Genetics & Genomic Medicine, 4(5), str. 557-567. doi: 10.1002/mgg3.234

Dreßen M, Lahm H, Lahm A, Wolf K, Doppler S, Deutsch MA, i sur.. A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function. Molecular Genetics & Genomic Medicine [Internet]. 14.07.2016. [pristupljeno 27.04.2024.];4(5):557-567. doi: 10.1002/mgg3.234

M. Dreßen, et al., "A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function", Molecular Genetics & Genomic Medicine, vol. 4, br. 5, str. 557-567, Srpanj 2016. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:788642. [Citirano: 27.04.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:105:788642
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Naslov (engleski)A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function
AutorMartina Dreßen
AutorHarald Lahm
AutorArmin Lahm
AutorKlaudia Wolf
AutorStefanie Doppler
AutorMarcus-André Deutsch
AutorJulie Cleuziou
AutorJelena Pabst von Ohain
AutorPatric Schön
AutorPeter Ewert
AutorIvan Malčić
AutorRüdiger Lange
AutorMarkus Krane
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
BACKGROUND: The Holt-Oram syndrome (HOS) is an autosomal dominant disorder affecting 1/100.000 live births. It is defined by upper limb anomalies and congenital heart defects with variable severity. We describe a dramatic phenotype of a male, 15-month-old patient being investigated for strict diagnostic criteria of HOS. ----- METHODS AND RESULTS: Genetic analysis revealed a so far unpublished TBX5 mutation, which occurs de novo in the patient with healthy parents. TBX5 belongs to the large family of T-box transcription factors playing major roles in morphogenesis and cell-type specification. The mutation located in the DNA-binding domain at position 920 (C→A) leads to an amino acid change at position 85 (proline → threonine). Three-dimensional analysis of the protein structure predicted a cis to trans change in the respective peptide bond, thereby probably provoking major conformational and functional alterations of the protein. The p.Pro85Thr mutation showed a dramatically reduced activation (97%) of the NPPA promoter in luciferase assays and failed to induce NPPA expression in HEK 293 cells compared to wild-type TBX5 protein. The mutation did not interfere with the nuclear localization of the protein. ----- CONCLUSION: These results suggest that the dramatic functional alteration of the p.Pro85Thr mutation leads to the distinctive phenotype of the patient.
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaMolecular Genetics & Genomic Medicine
Brojčani podacivol. 4, br. 5, str. 557-567
p-ISSN2324-9269
DOIhttps://doi.org/10.1002/mgg3.234
URN:NBNurn:nbn:hr:105:788642
Datum objave publikacije2016-07-14
URL dokumentahttps://doi.org/10.1002/mgg3.234
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
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Datum i vrijeme pohrane2024-03-28 08:47:17