Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Erin Torti; Boris Keren; Elizabeth E. Palmer; Zehua Zhu; Alexandra Afenjar; Ilse J. Anderson; Marisa V. Andrews; Celia Atkinson; Margaret Au; Susan A Berry; Kevin M. Bowling; Jackie Boyle; Julien Buratti; Sara S. Cathey; Perrine Charles; Benjamin Cogne; Thomas Courtin; Luis F. Escobar; Sabra Ledare Finley; John M. Graham; Dorothy K. Grange; Delphine Heron; Stacy Hewson; Susan M. Hiatt; Kathleen A. Hibbs; Parul Jayakar; Louisa Kalsner; Lise Larcher; Gaetan Lesca; Paul R. Mark; Kathryn Miller; Caroline Nava; Mathilde Nizon; G. Shashidhar Pai; John Pappas; Gretchen Parsons; Katelyn Payne; Audrey Putoux; Rachel Rabin; Isabelle Sabatier; Marwan Shinawi; Natasha Shur; Steven A. Skinner; Stephanie Valence; Hannah Warren; Sandra Whalen; Amy Crunk; Ganka Douglas; Kristin G. Monaghan; Richard E. Person; Rebecca Willaert; Benjamin D. Solomon; Jane Juusola

doi:10.1038/s41436-019-0454-9

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Erin Torti, Boris Keren, Elizabeth E. Palmer, Zehua Zhu, Alexandra Afenjar, Ilse J. Anderson, Marisa V. Andrews, Celia Atkinson, Margaret Au, Susan A Berry, Kevin M. Bowling, Jackie Boyle, Julien Buratti, Sara S. Cathey, Perrine Charles, Benjamin Cogne, Thomas Courtin, Luis F. Escobar, Sabra Ledare Finley, John M. GrahamDorothy K. Grange, Delphine Heron, Stacy Hewson, Susan M. Hiatt, Kathleen A. Hibbs, Parul Jayakar, Louisa Kalsner, Lise Larcher, Gaetan Lesca, Paul R. Mark, Kathryn Miller, Caroline Nava, Mathilde Nizon, G. Shashidhar Pai, John Pappas, Gretchen Parsons, Katelyn Payne, Audrey Putoux, Rachel Rabin, Isabelle Sabatier, Marwan Shinawi, Natasha Shur, Steven A. Skinner, Stephanie Valence, Hannah Warren, Sandra Whalen, Amy Crunk, Ganka Douglas, Kristin G. Monaghan, Richard E. Person, Rebecca Willaert, Benjamin D. Solomon, Jane Juusola

Pediatrics - Genetics and Metabolism

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

Abstract

Purpose: To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients. Methods: Patients were ascertained through molecular testing laboratories performing exome sequencing (and other testing) with orthogonal confirmation; collaborating referring clinicians provided detailed clinical information. Results: The cohort of 27 patients all had novel variants, and ranged in age from 2 to 68 years. All had developmental delay/intellectual disability. Autism spectrum disorders/autistic features were reported in 69%, attention disorders or hyperactivity in 67%, craniofacial features (no recognizable facial gestalt) in 67%, structural brain anomalies in 24%, and seizures in 12%. Additional features affecting various organ systems were described in 93%. In a majority of patients, we did not observe previously reported findings of postnatal overgrowth or craniosynostosis, in comparison with earlier reports. Conclusion: We provide valuable data regarding the prognosis and clinical manifestations of patients with variants in TCF20.

Original language	English (US)
Pages (from-to)	2036-2042
Number of pages	7
Journal	Genetics in Medicine
Volume	21
Issue number	9
DOIs	https://doi.org/10.1038/s41436-019-0454-9
State	Published - Sep 1 2019

Bibliographical note

Publisher Copyright:
© 2019, American College of Medical Genetics and Genomics.

Keywords

TCF20
autism
developmental delay
exome
intellectual disability

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Torti, E., Keren, B., Palmer, E. E., Zhu, Z., Afenjar, A., Anderson, I. J., Andrews, M. V., Atkinson, C., Au, M., Berry, S. A., Bowling, K. M., Boyle, J., Buratti, J., Cathey, S. S., Charles, P., Cogne, B., Courtin, T., Escobar, L. F., Finley, S. L., ... Juusola, J. (2019). Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Genetics in Medicine, 21(9), 2036-2042. https://doi.org/10.1038/s41436-019-0454-9

Torti, E, Keren, B, Palmer, EE, Zhu, Z, Afenjar, A, Anderson, IJ, Andrews, MV, Atkinson, C, Au, M, Berry, SA, Bowling, KM, Boyle, J, Buratti, J, Cathey, SS, Charles, P, Cogne, B, Courtin, T, Escobar, LF, Finley, SL, Graham, JM, Grange, DK, Heron, D, Hewson, S, Hiatt, SM, Hibbs, KA, Jayakar, P, Kalsner, L, Larcher, L, Lesca, G, Mark, PR, Miller, K, Nava, C, Nizon, M, Pai, GS, Pappas, J, Parsons, G, Payne, K, Putoux, A, Rabin, R, Sabatier, I, Shinawi, M, Shur, N, Skinner, SA, Valence, S, Warren, H, Whalen, S, Crunk, A, Douglas, G, Monaghan, KG, Person, RE, Willaert, R, Solomon, BD & Juusola, J 2019, 'Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature', Genetics in Medicine, vol. 21, no. 9, pp. 2036-2042. https://doi.org/10.1038/s41436-019-0454-9

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title = "Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature",

abstract = "Purpose: To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients. Methods: Patients were ascertained through molecular testing laboratories performing exome sequencing (and other testing) with orthogonal confirmation; collaborating referring clinicians provided detailed clinical information. Results: The cohort of 27 patients all had novel variants, and ranged in age from 2 to 68 years. All had developmental delay/intellectual disability. Autism spectrum disorders/autistic features were reported in 69%, attention disorders or hyperactivity in 67%, craniofacial features (no recognizable facial gestalt) in 67%, structural brain anomalies in 24%, and seizures in 12%. Additional features affecting various organ systems were described in 93%. In a majority of patients, we did not observe previously reported findings of postnatal overgrowth or craniosynostosis, in comparison with earlier reports. Conclusion: We provide valuable data regarding the prognosis and clinical manifestations of patients with variants in TCF20.",

keywords = "TCF20, autism, developmental delay, exome, intellectual disability",

author = "Erin Torti and Boris Keren and Palmer, {Elizabeth E.} and Zehua Zhu and Alexandra Afenjar and Anderson, {Ilse J.} and Andrews, {Marisa V.} and Celia Atkinson and Margaret Au and Berry, {Susan A} and Bowling, {Kevin M.} and Jackie Boyle and Julien Buratti and Cathey, {Sara S.} and Perrine Charles and Benjamin Cogne and Thomas Courtin and Escobar, {Luis F.} and Finley, {Sabra Ledare} and Graham, {John M.} and Grange, {Dorothy K.} and Delphine Heron and Stacy Hewson and Hiatt, {Susan M.} and Hibbs, {Kathleen A.} and Parul Jayakar and Louisa Kalsner and Lise Larcher and Gaetan Lesca and Mark, {Paul R.} and Kathryn Miller and Caroline Nava and Mathilde Nizon and Pai, {G. Shashidhar} and John Pappas and Gretchen Parsons and Katelyn Payne and Audrey Putoux and Rachel Rabin and Isabelle Sabatier and Marwan Shinawi and Natasha Shur and Skinner, {Steven A.} and Stephanie Valence and Hannah Warren and Sandra Whalen and Amy Crunk and Ganka Douglas and Monaghan, {Kristin G.} and Person, {Richard E.} and Rebecca Willaert and Solomon, {Benjamin D.} and Jane Juusola",

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T2 - description of 27 new patients and review of literature

AU - Torti, Erin

AU - Keren, Boris

AU - Palmer, Elizabeth E.

AU - Zhu, Zehua

AU - Afenjar, Alexandra

AU - Anderson, Ilse J.

AU - Andrews, Marisa V.

AU - Atkinson, Celia

AU - Au, Margaret

AU - Berry, Susan A

AU - Bowling, Kevin M.

AU - Boyle, Jackie

AU - Buratti, Julien

AU - Cathey, Sara S.

AU - Charles, Perrine

AU - Cogne, Benjamin

AU - Courtin, Thomas

AU - Escobar, Luis F.

AU - Finley, Sabra Ledare

AU - Graham, John M.

AU - Grange, Dorothy K.

AU - Heron, Delphine

AU - Hewson, Stacy

AU - Hiatt, Susan M.

AU - Hibbs, Kathleen A.

AU - Jayakar, Parul

AU - Kalsner, Louisa

AU - Larcher, Lise

AU - Lesca, Gaetan

AU - Mark, Paul R.

AU - Miller, Kathryn

AU - Nava, Caroline

AU - Nizon, Mathilde

AU - Pai, G. Shashidhar

AU - Pappas, John

AU - Parsons, Gretchen

AU - Payne, Katelyn

AU - Putoux, Audrey

AU - Rabin, Rachel

AU - Sabatier, Isabelle

AU - Shinawi, Marwan

AU - Shur, Natasha

AU - Skinner, Steven A.

AU - Valence, Stephanie

AU - Warren, Hannah

AU - Whalen, Sandra

AU - Crunk, Amy

AU - Douglas, Ganka

AU - Monaghan, Kristin G.

AU - Person, Richard E.

AU - Willaert, Rebecca

AU - Solomon, Benjamin D.

AU - Juusola, Jane

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N2 - Purpose: To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients. Methods: Patients were ascertained through molecular testing laboratories performing exome sequencing (and other testing) with orthogonal confirmation; collaborating referring clinicians provided detailed clinical information. Results: The cohort of 27 patients all had novel variants, and ranged in age from 2 to 68 years. All had developmental delay/intellectual disability. Autism spectrum disorders/autistic features were reported in 69%, attention disorders or hyperactivity in 67%, craniofacial features (no recognizable facial gestalt) in 67%, structural brain anomalies in 24%, and seizures in 12%. Additional features affecting various organ systems were described in 93%. In a majority of patients, we did not observe previously reported findings of postnatal overgrowth or craniosynostosis, in comparison with earlier reports. Conclusion: We provide valuable data regarding the prognosis and clinical manifestations of patients with variants in TCF20.

AB - Purpose: To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients. Methods: Patients were ascertained through molecular testing laboratories performing exome sequencing (and other testing) with orthogonal confirmation; collaborating referring clinicians provided detailed clinical information. Results: The cohort of 27 patients all had novel variants, and ranged in age from 2 to 68 years. All had developmental delay/intellectual disability. Autism spectrum disorders/autistic features were reported in 69%, attention disorders or hyperactivity in 67%, craniofacial features (no recognizable facial gestalt) in 67%, structural brain anomalies in 24%, and seizures in 12%. Additional features affecting various organ systems were described in 93%. In a majority of patients, we did not observe previously reported findings of postnatal overgrowth or craniosynostosis, in comparison with earlier reports. Conclusion: We provide valuable data regarding the prognosis and clinical manifestations of patients with variants in TCF20.

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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Abstract

Bibliographical note

Keywords

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