POLR3A and POLR3B Mutations in Unclassified Hypomyelination
2015; Thieme Medical Publishers (Germany); Volume: 46; Issue: 03 Linguagem: Inglês
10.1055/s-0035-1550148
ISSN1439-1899
AutoresRosalina van Spaendonk, Miriam Nickel, Annette Bley, Kether Guerrero, Luan T. Tran, Marjo S. van der Knaap, Geneviève Bernard, Ferdy Kurniawan Cayami, Roberta La Piana, Nicole I. Wolf,
Tópico(s)Molecular Biology Techniques and Applications
ResumoObjective 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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