Research ExplorerPublicationsPOLR3A and POLR3B Mutations in Unclassified Hypomyelination

POLR3A and POLR3B Mutations in Unclassified Hypomyelination

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POLR3A and POLR3B Mutations in Unclassified Hypomyelination. / Cayami, Ferdy K; La Piana, Roberta; van Spaendonk, Rosalina M L; Nickel, Miriam; Bley, Annette; Guerrero, Kether; Tran, Luan T; van der Knaap, Marjo S; Bernard, Geneviève; Wolf, Nicole I.

In: NEUROPEDIATRICS, Vol. 46, No. 3, 06.2015, p. 221-7.

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

Harvard

Cayami, FK, La Piana, R, van Spaendonk, RML, Nickel, M, Bley, A, Guerrero, K, Tran, LT, van der Knaap, MS, Bernard, G & Wolf, NI 2015, 'POLR3A and POLR3B Mutations in Unclassified Hypomyelination', NEUROPEDIATRICS, vol. 46, no. 3, pp. 221-7. https://doi.org/10.1055/s-0035-1550148

APA

Cayami, F. K., La Piana, R., van Spaendonk, R. M. L., Nickel, M., Bley, A., Guerrero, K., Tran, L. T., van der Knaap, M. S., Bernard, G., & Wolf, N. I. (2015). POLR3A and POLR3B Mutations in Unclassified Hypomyelination. NEUROPEDIATRICS, 46(3), 221-7. https://doi.org/10.1055/s-0035-1550148

Vancouver

Cayami FK, La Piana R, van Spaendonk RML, Nickel M, Bley A, Guerrero K et al. POLR3A and POLR3B Mutations in Unclassified Hypomyelination. NEUROPEDIATRICS. 2015 Jun;46(3):221-7. https://doi.org/10.1055/s-0035-1550148

Bibtex

@article{b1edc7d443b04dd68b6edec73c95bb6f,
title = "POLR3A and POLR3B Mutations in Unclassified Hypomyelination",
abstract = "Objective This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. Methods and Results In a cohort of 22 patients with the magnetic resonance imaging (MRI) diagnosis of unclassified hypomyelination and without typical clinical signs, we evaluated clinical and MRI features. Developmental delay or intellectual disability, ataxia, and spasticity were frequent symptoms. POLR3A and POLR3B were sequenced. A compound heterozygote mutation in POLR3B was found in only one patient. Additional investigations allowed a definitive diagnosis in 10 patients. Conclusion Mutations in POLR3A or POLR3B are rare in patients with unclassified hypomyelination, and alternative diagnoses should be considered first.",
author = "Cayami, {Ferdy K} and {La Piana}, Roberta and {van Spaendonk}, {Rosalina M L} and Miriam Nickel and Annette Bley and Kether Guerrero and Tran, {Luan T} and {van der Knaap}, {Marjo S} and Genevi{\`e}ve Bernard and Wolf, {Nicole I}",
note = "Georg Thieme Verlag KG Stuttgart · New York.",
year = "2015",
month = jun,
doi = "10.1055/s-0035-1550148",
language = "English",
volume = "46",
pages = "221--7",
journal = "NEUROPEDIATRICS",
issn = "0174-304X",
publisher = "Hippokrates Verlag GmbH",
number = "3",

}

RIS

TY - JOUR

T1 - POLR3A and POLR3B Mutations in Unclassified Hypomyelination

AU - Cayami, Ferdy K

AU - La Piana, Roberta

AU - van Spaendonk, Rosalina M L

AU - Nickel, Miriam

AU - Bley, Annette

AU - Guerrero, Kether

AU - Tran, Luan T

AU - van der Knaap, Marjo S

AU - Bernard, Geneviève

AU - Wolf, Nicole I

N1 - Georg Thieme Verlag KG Stuttgart · New York.

PY - 2015/6

Y1 - 2015/6

N2 - Objective This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. Methods and Results In a cohort of 22 patients with the magnetic resonance imaging (MRI) diagnosis of unclassified hypomyelination and without typical clinical signs, we evaluated clinical and MRI features. Developmental delay or intellectual disability, ataxia, and spasticity were frequent symptoms. POLR3A and POLR3B were sequenced. A compound heterozygote mutation in POLR3B was found in only one patient. Additional investigations allowed a definitive diagnosis in 10 patients. Conclusion Mutations in POLR3A or POLR3B are rare in patients with unclassified hypomyelination, and alternative diagnoses should be considered first.

AB - Objective This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. Methods and Results In a cohort of 22 patients with the magnetic resonance imaging (MRI) diagnosis of unclassified hypomyelination and without typical clinical signs, we evaluated clinical and MRI features. Developmental delay or intellectual disability, ataxia, and spasticity were frequent symptoms. POLR3A and POLR3B were sequenced. A compound heterozygote mutation in POLR3B was found in only one patient. Additional investigations allowed a definitive diagnosis in 10 patients. Conclusion Mutations in POLR3A or POLR3B are rare in patients with unclassified hypomyelination, and alternative diagnoses should be considered first.

U2 - 10.1055/s-0035-1550148

DO - 10.1055/s-0035-1550148

M3 - SCORING: Journal article

C2 - 26011300

VL - 46

SP - 221

EP - 227

JO - NEUROPEDIATRICS

JF - NEUROPEDIATRICS

SN - 0174-304X

IS - 3

ER -