Open AccessRecessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts
Author(s) -
Elżbieta Jurkiewicz,
Dorota Dunin-Wąsowicz,
Dorota GieruszczakBiałek,
Katarzyna Malczyk,
Kether Guerrero,
Mariana Gutiérrez,
Luan T. Tran,
Geneviève Bernard
Publication year - 2015
Publication title -
clinical neuroradiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.792
H-Index - 27
eISSN - 1869-1447
pISSN - 1869-1439
DOI - 10.1007/s00062-015-0472-1
Subject(s) - leukodystrophy , polymicrogyria , hypogonadotropic hypogonadism , hypodontia , medicine , compound heterozygosity , mutation , genetics , magnetic resonance imaging , pathology , gene , biology , radiology , disease , dentistry , hormone
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.