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Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

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Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. / Wagner, Matias; Lévy, Jonathan; Jung-Klawitter, Sabine; Bakhtiari, Somayeh; Monteiro, Fabiola; Maroofian, Reza; Bierhals, Tatjana; Hempel, Maja; Elmaleh-Bergès, Monique; Kitajima, Joao P; Kim, Chong A; Salomao, Julia G; Amor, David J; Cooper, Monica S; Perrin, Laurence; Pipiras, Eva; Neu, Axel; Doosti, Mohammad; Karimiani, Ehsan G; Toosi, Mehran B; Houlden, Henry; Jin, Sheng Chih; Si, Yue C; Rodan, Lance H; Venselaar, Hanka; Kruer, Michael C; Kok, Fernando; Hoffmann, Georg F; Strom, Tim M; Wortmann, Saskia B; Tabet, Anne-Claude; Opladen, Thomas.

in: GENET MED, Jahrgang 22, Nr. 6, 06.2020, S. 1061-1068.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Wagner, M, Lévy, J, Jung-Klawitter, S, Bakhtiari, S, Monteiro, F, Maroofian, R, Bierhals, T, Hempel, M, Elmaleh-Bergès, M, Kitajima, JP, Kim, CA, Salomao, JG, Amor, DJ, Cooper, MS, Perrin, L, Pipiras, E, Neu, A, Doosti, M, Karimiani, EG, Toosi, MB, Houlden, H, Jin, SC, Si, YC, Rodan, LH, Venselaar, H, Kruer, MC, Kok, F, Hoffmann, GF, Strom, TM, Wortmann, SB, Tabet, A-C & Opladen, T 2020, 'Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus', GENET MED, Jg. 22, Nr. 6, S. 1061-1068. https://doi.org/10.1038/s41436-020-0768-7

APA

Wagner, M., Lévy, J., Jung-Klawitter, S., Bakhtiari, S., Monteiro, F., Maroofian, R., Bierhals, T., Hempel, M., Elmaleh-Bergès, M., Kitajima, J. P., Kim, C. A., Salomao, J. G., Amor, D. J., Cooper, M. S., Perrin, L., Pipiras, E., Neu, A., Doosti, M., Karimiani, E. G., ... Opladen, T. (2020). Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. GENET MED, 22(6), 1061-1068. https://doi.org/10.1038/s41436-020-0768-7

Vancouver

Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R et al. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. GENET MED. 2020 Jun;22(6):1061-1068. https://doi.org/10.1038/s41436-020-0768-7

Bibtex

@article{d73f82ce600c42a1b00e3d021913a40d,
title = "Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus",
abstract = "PURPOSE: TNR, encoding Tenascin-R, is an extracellular matrix glycoprotein involved in neurite outgrowth and neural cell adhesion, proliferation and migration, axonal guidance, myelination, and synaptic plasticity. Tenascin-R is exclusively expressed in the central nervous system with highest expression after birth. The protein is crucial in the formation of perineuronal nets that ensheath interneurons. However, the role of Tenascin-R in human pathology is largely unknown. We aimed to establish TNR as a human disease gene and unravel the associated clinical spectrum.METHODS: Exome sequencing and an online matchmaking tool were used to identify patients with biallelic variants in TNR.RESULTS: We identified 13 individuals from 8 unrelated families with biallelic variants in TNR sharing a phenotype consisting of spastic para- or tetraparesis, axial muscular hypotonia, developmental delay, and transient opisthotonus. Four homozygous loss-of-function and four different missense variants were identified.CONCLUSION: We establish TNR as a disease gene for an autosomal recessive nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus and highlight the role of central nervous system extracellular matrix proteins in the pathogenicity of spastic disorders.",
author = "Matias Wagner and Jonathan L{\'e}vy and Sabine Jung-Klawitter and Somayeh Bakhtiari and Fabiola Monteiro and Reza Maroofian and Tatjana Bierhals and Maja Hempel and Monique Elmaleh-Berg{\`e}s and Kitajima, {Joao P} and Kim, {Chong A} and Salomao, {Julia G} and Amor, {David J} and Cooper, {Monica S} and Laurence Perrin and Eva Pipiras and Axel Neu and Mohammad Doosti and Karimiani, {Ehsan G} and Toosi, {Mehran B} and Henry Houlden and Jin, {Sheng Chih} and Si, {Yue C} and Rodan, {Lance H} and Hanka Venselaar and Kruer, {Michael C} and Fernando Kok and Hoffmann, {Georg F} and Strom, {Tim M} and Wortmann, {Saskia B} and Anne-Claude Tabet and Thomas Opladen",
year = "2020",
month = jun,
doi = "10.1038/s41436-020-0768-7",
language = "English",
volume = "22",
pages = "1061--1068",
journal = "GENET MED",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "6",

}

RIS

TY - JOUR

T1 - Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

AU - Wagner, Matias

AU - Lévy, Jonathan

AU - Jung-Klawitter, Sabine

AU - Bakhtiari, Somayeh

AU - Monteiro, Fabiola

AU - Maroofian, Reza

AU - Bierhals, Tatjana

AU - Hempel, Maja

AU - Elmaleh-Bergès, Monique

AU - Kitajima, Joao P

AU - Kim, Chong A

AU - Salomao, Julia G

AU - Amor, David J

AU - Cooper, Monica S

AU - Perrin, Laurence

AU - Pipiras, Eva

AU - Neu, Axel

AU - Doosti, Mohammad

AU - Karimiani, Ehsan G

AU - Toosi, Mehran B

AU - Houlden, Henry

AU - Jin, Sheng Chih

AU - Si, Yue C

AU - Rodan, Lance H

AU - Venselaar, Hanka

AU - Kruer, Michael C

AU - Kok, Fernando

AU - Hoffmann, Georg F

AU - Strom, Tim M

AU - Wortmann, Saskia B

AU - Tabet, Anne-Claude

AU - Opladen, Thomas

PY - 2020/6

Y1 - 2020/6

N2 - PURPOSE: TNR, encoding Tenascin-R, is an extracellular matrix glycoprotein involved in neurite outgrowth and neural cell adhesion, proliferation and migration, axonal guidance, myelination, and synaptic plasticity. Tenascin-R is exclusively expressed in the central nervous system with highest expression after birth. The protein is crucial in the formation of perineuronal nets that ensheath interneurons. However, the role of Tenascin-R in human pathology is largely unknown. We aimed to establish TNR as a human disease gene and unravel the associated clinical spectrum.METHODS: Exome sequencing and an online matchmaking tool were used to identify patients with biallelic variants in TNR.RESULTS: We identified 13 individuals from 8 unrelated families with biallelic variants in TNR sharing a phenotype consisting of spastic para- or tetraparesis, axial muscular hypotonia, developmental delay, and transient opisthotonus. Four homozygous loss-of-function and four different missense variants were identified.CONCLUSION: We establish TNR as a disease gene for an autosomal recessive nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus and highlight the role of central nervous system extracellular matrix proteins in the pathogenicity of spastic disorders.

AB - PURPOSE: TNR, encoding Tenascin-R, is an extracellular matrix glycoprotein involved in neurite outgrowth and neural cell adhesion, proliferation and migration, axonal guidance, myelination, and synaptic plasticity. Tenascin-R is exclusively expressed in the central nervous system with highest expression after birth. The protein is crucial in the formation of perineuronal nets that ensheath interneurons. However, the role of Tenascin-R in human pathology is largely unknown. We aimed to establish TNR as a human disease gene and unravel the associated clinical spectrum.METHODS: Exome sequencing and an online matchmaking tool were used to identify patients with biallelic variants in TNR.RESULTS: We identified 13 individuals from 8 unrelated families with biallelic variants in TNR sharing a phenotype consisting of spastic para- or tetraparesis, axial muscular hypotonia, developmental delay, and transient opisthotonus. Four homozygous loss-of-function and four different missense variants were identified.CONCLUSION: We establish TNR as a disease gene for an autosomal recessive nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus and highlight the role of central nervous system extracellular matrix proteins in the pathogenicity of spastic disorders.

U2 - 10.1038/s41436-020-0768-7

DO - 10.1038/s41436-020-0768-7

M3 - SCORING: Journal article

C2 - 32099069

VL - 22

SP - 1061

EP - 1068

JO - GENET MED

JF - GENET MED

SN - 1098-3600

IS - 6

ER -