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. 2015 Jun;46(3):221-8.
doi: 10.1055/s-0035-1550148. Epub 2015 May 8.

POLR3A and POLR3B Mutations in Unclassified Hypomyelination

Ferdy K Cayami  1 , Roberta La Piana  2 , Rosalina M L van Spaendonk  3 , Miriam Nickel  4 , Annette Bley  4 , Kether Guerrero  2 , Luan T Tran  2 , Marjo S van der Knaap  1 , Geneviève Bernard  2 , Nicole I Wolf  1
Affiliations

POLR3A and POLR3B Mutations in Unclassified Hypomyelination

Ferdy K Cayami et al. Neuropediatrics. 2015 Jun.

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.

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