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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. / Aerden, Mio; Denommé-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gérard, Bénédicte; Mazel, Benoît; Philippe, Christophe; Pinson, Lucile; Prouteau, Clément; Putoux, Audrey; Tran Mau-Them, Frédéric; Viora-Dupont, Éléonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amélie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortüm, Fanny; Lisfeld, Jasmin; Debray, François-Guillaume; Bramswig, Nuria C; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; López-González, Vanesa; Kibaek, Maria; Tørring, Pernille M; Renieri, Alessandra; Bruno, Lucia Pia; Õunap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde.

In: EUR J HUM GENET, Vol. 31, No. 4, 04.2023, p. 461-468.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, NC, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, PM, Renieri, A, Bruno, LP, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & Van Esch, H 2023, 'The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant', EUR J HUM GENET, vol. 31, no. 4, pp. 461-468. https://doi.org/10.1038/s41431-023-01307-x

APA

Aerden, M., Denommé-Pichon, A-S., Bonneau, D., Bruel, A-L., Delanne, J., Gérard, B., Mazel, B., Philippe, C., Pinson, L., Prouteau, C., Putoux, A., Tran Mau-Them, F., Viora-Dupont, É., Vitobello, A., Ziegler, A., Piton, A., Isidor, B., Francannet, C., Maillard, P-Y., ... Van Esch, H. (2023). The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. EUR J HUM GENET, 31(4), 461-468. https://doi.org/10.1038/s41431-023-01307-x

Vancouver

Aerden M, Denommé-Pichon A-S, Bonneau D, Bruel A-L, Delanne J, Gérard B et al. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. EUR J HUM GENET. 2023 Apr;31(4):461-468. https://doi.org/10.1038/s41431-023-01307-x

Bibtex

@article{8cbcf0c71b304370aab1d37a2ad80171,
title = "The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant",
abstract = "Haploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic features, also named Clark-Baraitser syndrome. Only a limited number of cases have been reported to date. We aimed to further delineate the TRIP12-associated phenotype and objectify characteristic facial traits through GestaltMatcher image analysis based on deep-learning algorithms in order to establish a TRIP12 gestalt. 38 individuals between 3 and 66 years (F = 20, M = 18) - 1 previously published and 37 novel individuals - were recruited through an ERN ITHACA call for collaboration. 35 TRIP12 variants were identified, including frameshift (n = 15) and nonsense (n = 6) variants, as well as missense (n = 5) and splice (n = 3) variants, intragenic deletions (n = 4) and two multigene deletions disrupting TRIP12. Though variable in severity, global developmental delay was noted in all individuals, with language deficit most pronounced. About half showed autistic features and susceptibility to obesity seemed inherent to this disorder. A more severe expression was noted in individuals with a missense variant. Facial analysis showed a clear gestalt including deep-set eyes with narrow palpebral fissures and fullness of the upper eyelids, downturned corners of the mouth and large, often low-set ears with prominent earlobes. We report the largest cohort to date of individuals with TRIP12 variants, further delineating the associated phenotype and introducing a facial gestalt. These findings will improve future counseling and patient guidance.",
author = "Mio Aerden and Anne-Sophie Denomm{\'e}-Pichon and Dominique Bonneau and Ange-Line Bruel and Julian Delanne and B{\'e}n{\'e}dicte G{\'e}rard and Beno{\^i}t Mazel and Christophe Philippe and Lucile Pinson and Cl{\'e}ment Prouteau and Audrey Putoux and {Tran Mau-Them}, Fr{\'e}d{\'e}ric and {\'E}l{\'e}onore Viora-Dupont and Antonio Vitobello and Alban Ziegler and Am{\'e}lie Piton and Bertrand Isidor and Christine Francannet and Pierre-Yves Maillard and Sophie Julia and Anais Philippe and Elise Schaefer and Saskia Koene and Claudia Ruivenkamp and Mariette Hoffer and Eric Legius and Miel Theunis and Boris Keren and Julien Buratti and Perrine Charles and Thomas Courtin and Mala Misra-Isrie and {van Haelst}, Mieke and Quinten Waisfisz and Dagmar Wieczorek and Ariane Schmetz and Theresia Herget and Fanny Kort{\"u}m and Jasmin Lisfeld and Fran{\c c}ois-Guillaume Debray and Bramswig, {Nuria C} and Isis Atallah and Heidi Fodstad and Guillaume Jouret and Berta Almoguera and Saoud Tahsin-Swafiri and Fernando Santos-Simarro and Maria Palomares-Bralo and Vanesa L{\'o}pez-Gonz{\'a}lez and Maria Kibaek and T{\o}rring, {Pernille M} and Alessandra Renieri and Bruno, {Lucia Pia} and Katrin {\~O}unap and Monica Wojcik and Tzung-Chien Hsieh and Peter Krawitz and {Van Esch}, Hilde",
note = "{\textcopyright} 2023. The Author(s), under exclusive licence to European Society of Human Genetics.",
year = "2023",
month = apr,
doi = "10.1038/s41431-023-01307-x",
language = "English",
volume = "31",
pages = "461--468",
journal = "EUR J HUM GENET",
issn = "1018-4813",
publisher = "NATURE PUBLISHING GROUP",
number = "4",

}

RIS

TY - JOUR

T1 - The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

AU - Aerden, Mio

AU - Denommé-Pichon, Anne-Sophie

AU - Bonneau, Dominique

AU - Bruel, Ange-Line

AU - Delanne, Julian

AU - Gérard, Bénédicte

AU - Mazel, Benoît

AU - Philippe, Christophe

AU - Pinson, Lucile

AU - Prouteau, Clément

AU - Putoux, Audrey

AU - Tran Mau-Them, Frédéric

AU - Viora-Dupont, Éléonore

AU - Vitobello, Antonio

AU - Ziegler, Alban

AU - Piton, Amélie

AU - Isidor, Bertrand

AU - Francannet, Christine

AU - Maillard, Pierre-Yves

AU - Julia, Sophie

AU - Philippe, Anais

AU - Schaefer, Elise

AU - Koene, Saskia

AU - Ruivenkamp, Claudia

AU - Hoffer, Mariette

AU - Legius, Eric

AU - Theunis, Miel

AU - Keren, Boris

AU - Buratti, Julien

AU - Charles, Perrine

AU - Courtin, Thomas

AU - Misra-Isrie, Mala

AU - van Haelst, Mieke

AU - Waisfisz, Quinten

AU - Wieczorek, Dagmar

AU - Schmetz, Ariane

AU - Herget, Theresia

AU - Kortüm, Fanny

AU - Lisfeld, Jasmin

AU - Debray, François-Guillaume

AU - Bramswig, Nuria C

AU - Atallah, Isis

AU - Fodstad, Heidi

AU - Jouret, Guillaume

AU - Almoguera, Berta

AU - Tahsin-Swafiri, Saoud

AU - Santos-Simarro, Fernando

AU - Palomares-Bralo, Maria

AU - López-González, Vanesa

AU - Kibaek, Maria

AU - Tørring, Pernille M

AU - Renieri, Alessandra

AU - Bruno, Lucia Pia

AU - Õunap, Katrin

AU - Wojcik, Monica

AU - Hsieh, Tzung-Chien

AU - Krawitz, Peter

AU - Van Esch, Hilde

N1 - © 2023. The Author(s), under exclusive licence to European Society of Human Genetics.

PY - 2023/4

Y1 - 2023/4

N2 - Haploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic features, also named Clark-Baraitser syndrome. Only a limited number of cases have been reported to date. We aimed to further delineate the TRIP12-associated phenotype and objectify characteristic facial traits through GestaltMatcher image analysis based on deep-learning algorithms in order to establish a TRIP12 gestalt. 38 individuals between 3 and 66 years (F = 20, M = 18) - 1 previously published and 37 novel individuals - were recruited through an ERN ITHACA call for collaboration. 35 TRIP12 variants were identified, including frameshift (n = 15) and nonsense (n = 6) variants, as well as missense (n = 5) and splice (n = 3) variants, intragenic deletions (n = 4) and two multigene deletions disrupting TRIP12. Though variable in severity, global developmental delay was noted in all individuals, with language deficit most pronounced. About half showed autistic features and susceptibility to obesity seemed inherent to this disorder. A more severe expression was noted in individuals with a missense variant. Facial analysis showed a clear gestalt including deep-set eyes with narrow palpebral fissures and fullness of the upper eyelids, downturned corners of the mouth and large, often low-set ears with prominent earlobes. We report the largest cohort to date of individuals with TRIP12 variants, further delineating the associated phenotype and introducing a facial gestalt. These findings will improve future counseling and patient guidance.

AB - Haploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic features, also named Clark-Baraitser syndrome. Only a limited number of cases have been reported to date. We aimed to further delineate the TRIP12-associated phenotype and objectify characteristic facial traits through GestaltMatcher image analysis based on deep-learning algorithms in order to establish a TRIP12 gestalt. 38 individuals between 3 and 66 years (F = 20, M = 18) - 1 previously published and 37 novel individuals - were recruited through an ERN ITHACA call for collaboration. 35 TRIP12 variants were identified, including frameshift (n = 15) and nonsense (n = 6) variants, as well as missense (n = 5) and splice (n = 3) variants, intragenic deletions (n = 4) and two multigene deletions disrupting TRIP12. Though variable in severity, global developmental delay was noted in all individuals, with language deficit most pronounced. About half showed autistic features and susceptibility to obesity seemed inherent to this disorder. A more severe expression was noted in individuals with a missense variant. Facial analysis showed a clear gestalt including deep-set eyes with narrow palpebral fissures and fullness of the upper eyelids, downturned corners of the mouth and large, often low-set ears with prominent earlobes. We report the largest cohort to date of individuals with TRIP12 variants, further delineating the associated phenotype and introducing a facial gestalt. These findings will improve future counseling and patient guidance.

U2 - 10.1038/s41431-023-01307-x

DO - 10.1038/s41431-023-01307-x

M3 - SCORING: Journal article

C2 - 36747006

VL - 31

SP - 461

EP - 468

JO - EUR J HUM GENET

JF - EUR J HUM GENET

SN - 1018-4813

IS - 4

ER -