Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients

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Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. / 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.

in: GENET MED, Jahrgang 22, Nr. 3, 03.2020, S. 610-621.

Publikationen: SCORING: Beitrag in Fachzeitschrift/ZeitungSCORING: ZeitschriftenaufsatzForschungBegutachtung

Harvard

Staufner, C, Peters, B, Wagner, M, Alameer, S, Barić, I, Broué, P, Bulut, D, Church, JA, Crushell, E, Dalgıç, B, Das, AM, Dick, A, Dikow, N, Dionisi-Vici, C, Distelmaier, F, Bozbulut, NE, Feillet, F, Gonzales, E, Hadzic, N, Hauck, F, Hegarty, R, Hempel, M, Herget, T, Klein, C, Konstantopoulou, V, Kopajtich, R, Kuster, A, Laass, MW, Lainka, E, Larson-Nath, C, Leibner, A, Lurz, E, Mayr, JA, McKiernan, P, Mention, K, Moog, U, Mungan, NO, Riedhammer, KM, Santer, R, Palafoll, IV, Vockley, J, Westphal, DS, Wiedemann, A, Wortmann, SB, Diwan, GD, Russell, RB, Prokisch, H, Garbade, SF, Kölker, S, Hoffmann, GF & Lenz, D 2020, 'Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients', GENET MED, Jg. 22, Nr. 3, S. 610-621. https://doi.org/10.1038/s41436-019-0698-4

APA

Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J. A., Crushell, E., Dalgıç, B., Das, A. M., Dick, A., Dikow, N., Dionisi-Vici, C., Distelmaier, F., Bozbulut, N. E., Feillet, F., Gonzales, E., Hadzic, N., ... Lenz, D. (2020). Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. GENET MED, 22(3), 610-621. https://doi.org/10.1038/s41436-019-0698-4

Vancouver

Bibtex

@article{a74d4ba5e6924e0590c62e4e87fecbe6,
title = "Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients",
abstract = "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-Hu{\"e}t anomaly/SOPH).CONCLUSION: We define clinical subgroups of NBAS-associated disease that can guide patient management and point to domain-specific functions of NBAS.",
author = "Christian Staufner and Bianca Peters and Matias Wagner and Seham Alameer and Ivo Bari{\'c} and Pierre Brou{\'e} and Derya Bulut and Church, {Joseph A} and Ellen Crushell and Buket Dalgı{\c c} and Das, {Anibh M} and Anke Dick and Nicola Dikow and Carlo Dionisi-Vici and Felix Distelmaier and Bozbulut, {Neslihan Ek{\c s}i} and Fran{\c c}ois Feillet and Emmanuel Gonzales and Nedim Hadzic and Fabian Hauck and Robert Hegarty and Maja Hempel and Theresia Herget and Christoph Klein and Vassiliki Konstantopoulou and Robert Kopajtich and Alice Kuster and Laass, {Martin W} and Elke Lainka and Catherine Larson-Nath and Alexander Leibner and Eberhard Lurz and Mayr, {Johannes A} and Patrick McKiernan and Karine Mention and Ute Moog and Mungan, {Neslihan Onenli} and Riedhammer, {Korbinian M} and Ren{\'e} Santer and Palafoll, {Irene Valenzuela} and Jerry Vockley and Westphal, {Dominik S} and Arnaud Wiedemann and Wortmann, {Saskia B} and Diwan, {Gaurav D} and Russell, {Robert B} and Holger Prokisch and Garbade, {Sven F} and Stefan K{\"o}lker and Hoffmann, {Georg F} and Dominic Lenz",
year = "2020",
month = mar,
doi = "10.1038/s41436-019-0698-4",
language = "English",
volume = "22",
pages = "610--621",
journal = "GENET MED",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "3",

}

RIS

TY - JOUR

T1 - Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients

AU - Staufner, Christian

AU - Peters, Bianca

AU - Wagner, Matias

AU - Alameer, Seham

AU - Barić, Ivo

AU - Broué, Pierre

AU - Bulut, Derya

AU - Church, Joseph A

AU - Crushell, Ellen

AU - Dalgıç, Buket

AU - Das, Anibh M

AU - Dick, Anke

AU - Dikow, Nicola

AU - Dionisi-Vici, Carlo

AU - Distelmaier, Felix

AU - Bozbulut, Neslihan Ekşi

AU - Feillet, François

AU - Gonzales, Emmanuel

AU - Hadzic, Nedim

AU - Hauck, Fabian

AU - Hegarty, Robert

AU - Hempel, Maja

AU - Herget, Theresia

AU - Klein, Christoph

AU - Konstantopoulou, Vassiliki

AU - Kopajtich, Robert

AU - Kuster, Alice

AU - Laass, Martin W

AU - Lainka, Elke

AU - Larson-Nath, Catherine

AU - Leibner, Alexander

AU - Lurz, Eberhard

AU - Mayr, Johannes A

AU - McKiernan, Patrick

AU - Mention, Karine

AU - Moog, Ute

AU - Mungan, Neslihan Onenli

AU - Riedhammer, Korbinian M

AU - Santer, René

AU - Palafoll, Irene Valenzuela

AU - Vockley, Jerry

AU - Westphal, Dominik S

AU - Wiedemann, Arnaud

AU - Wortmann, Saskia B

AU - Diwan, Gaurav D

AU - Russell, Robert B

AU - Prokisch, Holger

AU - Garbade, Sven F

AU - Kölker, Stefan

AU - Hoffmann, Georg F

AU - Lenz, Dominic

PY - 2020/3

Y1 - 2020/3

N2 - 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.

AB - 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.

U2 - 10.1038/s41436-019-0698-4

DO - 10.1038/s41436-019-0698-4

M3 - SCORING: Journal article

C2 - 31761904

VL - 22

SP - 610

EP - 621

JO - GENET MED

JF - GENET MED

SN - 1098-3600

IS - 3

ER -