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Clinical Neuroradiology
Published in: Clinical Neuroradiology 2/2017

Open Access 01-06-2017 | Original Article

Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts

Authors: E. Jurkiewicz, D. Dunin-Wąsowicz, D. Gieruszczak-Białek, K. Malczyk, K. Guerrero, M. Gutierrez, L. Tran, G. Bernard

Published in: Clinical Neuroradiology | Issue 2/2017

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Abstract

The diagnosis of 4H leukodystrophy (hypomyelination, hypogonadotropic hypogonadism, and hypodontia) is based on clinical findings and magnetic resonance imaging (MRI). Recently, mutations of the genes encoding Pol III (RNA polymerase III) subunit A (POLR3A) and subunit B (POL3B) have been identified as the genetic causes of hypomyelination. We describe two Polish female siblings aged 5 and 10 years with compound heterozygous mutations in POLR3B. They both presented with similar clinical symptoms and MRI findings presenting as 4H leukodystrophy, and the association of polymicrogyria and cataract. According to our observation in young children with the absence of hypogonadotropic hypogonadism, brain MRI pattern is very essential in proper early diagnosis of 4H leukodystrophy. All clinical and radiological results are of course helpful, however genetic conformation is always necessary.
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Metadata
Title
Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts
Authors
E. Jurkiewicz
D. Dunin-Wąsowicz
D. Gieruszczak-Białek
K. Malczyk
K. Guerrero
M. Gutierrez
L. Tran
G. Bernard
Publication date
01-06-2017
Publisher
Springer Berlin Heidelberg
Published in
Clinical Neuroradiology / Issue 2/2017
Print ISSN: 1869-1439
Electronic ISSN: 1869-1447
DOI
https://doi.org/10.1007/s00062-015-0472-1

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