prikaz prve stranice dokumenta Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
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Scientific paper - Original scientific paper
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
Genetics in Medicine, 22 (2020), 3; 610-621. https://doi.org/10.1038/s41436-019-0698-4
Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Barić, Ivo; Broué, Pierre; Bulut, Derya; Church, Joseph A.; Crushell, Ellen; Dalgıç, Buket; Das, Anibh M.; Dick, Anke; Dikow, Nicola; Dionisi-Vici, Carlo; Distelmaier, Felix; Bozbulut, Neslihan Ekşi; Feillet, François; Gonzales, Emmanuel; Hadzic, Nedim; Hauck, Fabian; Hegarty, Robert; Hempel, Maja; Herget, Theresia; Klein, Christoph; Konstantopoulou, Vassiliki; Kopajtich, Robert; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Larson-Nath, Catherine; Leibner, Alexander; Lurz, Eberhard; Mayr, Johannes A.; McKiernan, Patrick; Mention, Karine; Moog, Ute; Mungan, Neslihan Onenli; Riedhammer, Korbinian M.; Santer, René; Palafoll, Irene Valenzuela; Vockley, Jerry; Westphal, Dominik S.; Wiedemann, Arnaud; Wortmann, Saskia B.; Diwan, Gaurav D.; Russell, Robert B.; Prokisch, Holger; Garbade, Sven F.; Kölker, Stefan; Hoffmann, Georg F.; Lenz, Dominic More authors...

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Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P. ... Lenz, D. (2020). Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients. Genetics in Medicine, 22. (3), 610-621. doi: 10.1038/s41436-019-0698-4

Staufner, Christian, et al. "Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients." Genetics in Medicine, vol. 22, no. 3, 2020, pp. 610-621. https://doi.org/10.1038/s41436-019-0698-4

Staufner, Christian, Bianca Peters, Matias Wagner, Seham Alameer, Ivo Barić, Pierre Broué, Derya Bulut, et al. "Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients." Genetics in Medicine 22, no. 3 (2020): 610-621. https://doi.org/10.1038/s41436-019-0698-4

Staufner, C., et al. (2020) 'Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients', Genetics in Medicine, 22(3), pp. 610-621. doi: 10.1038/s41436-019-0698-4

Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, and sur.. Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients. Genetics in Medicine [Internet]. 2020 March [cited 2024 November 30];22(3):610-621. doi: 10.1038/s41436-019-0698-4

C. Staufner, et al., "Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients", Genetics in Medicine, vol. 22, no. 3, pp. 610-621, March 2020. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:048976. [Accessed: 30 November 2024]

Metadata
Title (english)Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
AuthorChristian Staufner
AuthorBianca Peters
AuthorMatias Wagner
AuthorSeham Alameer
AuthorIvo Barić
AuthorPierre Broué
AuthorDerya Bulut
AuthorJoseph A. Church
AuthorEllen Crushell
AuthorBuket Dalgıç
AuthorAnibh M. Das
AuthorAnke Dick
AuthorNicola Dikow
AuthorCarlo Dionisi-Vici
AuthorFelix Distelmaier
AuthorNeslihan Ekşi Bozbulut
AuthorFrançois Feillet
AuthorEmmanuel Gonzales
AuthorNedim Hadzic
AuthorFabian Hauck
AuthorRobert Hegarty
AuthorMaja Hempel
AuthorTheresia Herget
AuthorChristoph Klein
AuthorVassiliki Konstantopoulou
AuthorRobert Kopajtich
AuthorAlice Kuster
AuthorMartin W. Laass
AuthorElke Lainka
AuthorCatherine Larson-Nath
AuthorAlexander Leibner
AuthorEberhard Lurz
AuthorJohannes A. Mayr
AuthorPatrick McKiernan
AuthorKarine Mention
AuthorUte Moog
AuthorNeslihan Onenli Mungan
AuthorKorbinian M. Riedhammer
AuthorRené Santer
AuthorIrene Valenzuela Palafoll
AuthorJerry Vockley
AuthorDominik S. Westphal
AuthorArnaud Wiedemann
AuthorSaskia B. Wortmann
AuthorGaurav D. Diwan
AuthorRobert B. Russell
AuthorHolger Prokisch
AuthorSven F. Garbade
AuthorStefan Kölker
AuthorGeorg F. Hoffmann
AuthorDominic Lenz
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)
Purpose: Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously growing number of patients but a lack of systematic and quantitative analysis. ----- Methods: Individuals with biallelic variants in NBAS were recruited within an international, multicenter study, including novel and previously published patients. Clinical variables were analyzed with log-linear models and visualized by mosaic plots; facial profiles were investigated via DeepGestalt. The structure of the NBAS protein was predicted using computational methods. ----- Results: One hundred ten individuals from 97 families with biallelic pathogenic NBAS variants were identified, including 26 novel patients with 19 previously unreported variants, giving a total number of 86 variants. Protein modeling redefined the β-propeller domain of NBAS. Based on the localization of missense variants and in-frame deletions, three clinical subgroups arise that differ significantly regarding main clinical features and are directly related to the affected region of the NBAS protein: β-propeller (combined phenotype), Sec39 (infantile liver failure syndrome type 2/ILFS2), and C-terminal (short stature, optic atrophy, and Pelger-Huët anomaly/SOPH). ----- Conclusion: We define clinical subgroups of NBAS-associated disease that can guide patient management and point to domain-specific functions of NBAS.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleGenetics in Medicine
Numberingvol. 22, no. 3, pp. 610-621
p-ISSN1098-3600
e-ISSN1530-0366
DOIhttps://doi.org/10.1038/s41436-019-0698-4
URN:NBNurn:nbn:hr:105:048976
Publication2020-03
Document URLhttp://www.nature.com/articles/s41436-019-0698-4
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2021-01-07 12:45:45