POLR3A and POLR3B Mutations in Unclassified Hypomyelination

F.K. Cayami, R. La Piana, R.M.L. van Spaendonk, M. Nickel, A. Bley, K. Guerrero, L.T. Tran, M. Knaap, G. Bernard, N.I. Wolf

    Research output: Contribution to JournalArticleAcademicpeer-review

    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
    Original languageEnglish
    Pages (from-to)221-227
    JournalNeuropediatrics
    Volume46
    Issue number3
    DOIs
    Publication statusPublished - 2015

    Fingerprint

    Dive into the research topics of 'POLR3A and POLR3B Mutations in Unclassified Hypomyelination'. Together they form a unique fingerprint.

    Cite this