Standard

Tubulinopathies continued : refining the phenotypic spectrum associated with variants in TUBG1. / Brock, Stefanie; Stouffs, Katrien; Scalais, Emmanuel; D'Hooghe, Marc; Keymolen, Kathelijn; Guerrini, Renzo; Dobyns, William B; Di Donato, Nataliya; Jansen, Anna C.

In: European Journal of Human Genetics, Vol. 26, No. 8, 01.08.2018, p. 1132-1142.

Research output: Contribution to journalArticle

Harvard

Brock, S, Stouffs, K, Scalais, E, D'Hooghe, M, Keymolen, K, Guerrini, R, Dobyns, WB, Di Donato, N & Jansen, AC 2018, 'Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1', European Journal of Human Genetics, vol. 26, no. 8, pp. 1132-1142. https://doi.org/10.1038/s41431-018-0146-y

APA

Vancouver

Author

Brock, Stefanie ; Stouffs, Katrien ; Scalais, Emmanuel ; D'Hooghe, Marc ; Keymolen, Kathelijn ; Guerrini, Renzo ; Dobyns, William B ; Di Donato, Nataliya ; Jansen, Anna C. / Tubulinopathies continued : refining the phenotypic spectrum associated with variants in TUBG1. In: European Journal of Human Genetics. 2018 ; Vol. 26, No. 8. pp. 1132-1142.

BibTeX

@article{a37675ce964045f4a19cdccdafed6a48,
title = "Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1",
abstract = "Tubulinopathies are a heterogeneous group of conditions with a wide spectrum of clinical severity resulting from variants in genes of the tubulin superfamily. Variants in TUBG1 have been described in three patients with posterior predominant pachygyria and microcephaly. We here report eight additional patients with four novel heterozygous variants in TUBG1 identified by next-generation sequencing (NGS) analysis. All had severe motor and cognitive impairment and all except one developed seizures in early life. The core imaging features included a pachygyric cortex with posterior to anterior gradient, enlarged lateral ventricles most pronounced over the posterior horns, and variable degrees of reduced white matter volume. Basal ganglia, corpus callosum, brainstem, and cerebellum were often normal, in contrast to patients with variants in other tubulin genes where these structures are frequently malformed. The imaging phenotype associated with variants in TUBG1 is therefore more in line with the phenotype resulting from variants in LIS1 (a.k.a. PAFAH1B1). This difference may, at least in part, be explained by gamma-tubulin's physiological function in microtubule nucleation, which differs from that of alpha and beta-tubulin.",
author = "Stefanie Brock and Katrien Stouffs and Emmanuel Scalais and Marc D'Hooghe and Kathelijn Keymolen and Renzo Guerrini and Dobyns, {William B} and {Di Donato}, Nataliya and Jansen, {Anna C}",
year = "2018",
month = "8",
day = "1",
doi = "10.1038/s41431-018-0146-y",
language = "English",
volume = "26",
pages = "1132--1142",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "8",

}

RIS

TY - JOUR

T1 - Tubulinopathies continued

T2 - refining the phenotypic spectrum associated with variants in TUBG1

AU - Brock, Stefanie

AU - Stouffs, Katrien

AU - Scalais, Emmanuel

AU - D'Hooghe, Marc

AU - Keymolen, Kathelijn

AU - Guerrini, Renzo

AU - Dobyns, William B

AU - Di Donato, Nataliya

AU - Jansen, Anna C

PY - 2018/8/1

Y1 - 2018/8/1

N2 - Tubulinopathies are a heterogeneous group of conditions with a wide spectrum of clinical severity resulting from variants in genes of the tubulin superfamily. Variants in TUBG1 have been described in three patients with posterior predominant pachygyria and microcephaly. We here report eight additional patients with four novel heterozygous variants in TUBG1 identified by next-generation sequencing (NGS) analysis. All had severe motor and cognitive impairment and all except one developed seizures in early life. The core imaging features included a pachygyric cortex with posterior to anterior gradient, enlarged lateral ventricles most pronounced over the posterior horns, and variable degrees of reduced white matter volume. Basal ganglia, corpus callosum, brainstem, and cerebellum were often normal, in contrast to patients with variants in other tubulin genes where these structures are frequently malformed. The imaging phenotype associated with variants in TUBG1 is therefore more in line with the phenotype resulting from variants in LIS1 (a.k.a. PAFAH1B1). This difference may, at least in part, be explained by gamma-tubulin's physiological function in microtubule nucleation, which differs from that of alpha and beta-tubulin.

AB - Tubulinopathies are a heterogeneous group of conditions with a wide spectrum of clinical severity resulting from variants in genes of the tubulin superfamily. Variants in TUBG1 have been described in three patients with posterior predominant pachygyria and microcephaly. We here report eight additional patients with four novel heterozygous variants in TUBG1 identified by next-generation sequencing (NGS) analysis. All had severe motor and cognitive impairment and all except one developed seizures in early life. The core imaging features included a pachygyric cortex with posterior to anterior gradient, enlarged lateral ventricles most pronounced over the posterior horns, and variable degrees of reduced white matter volume. Basal ganglia, corpus callosum, brainstem, and cerebellum were often normal, in contrast to patients with variants in other tubulin genes where these structures are frequently malformed. The imaging phenotype associated with variants in TUBG1 is therefore more in line with the phenotype resulting from variants in LIS1 (a.k.a. PAFAH1B1). This difference may, at least in part, be explained by gamma-tubulin's physiological function in microtubule nucleation, which differs from that of alpha and beta-tubulin.

UR - http://www.scopus.com/inward/record.url?scp=85046102564&partnerID=8YFLogxK

U2 - 10.1038/s41431-018-0146-y

DO - 10.1038/s41431-018-0146-y

M3 - Article

C2 - 29706637

VL - 26

SP - 1132

EP - 1142

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 8

ER -

ID: 37529581