Ontology highlight
ABSTRACT:
SUBMITTER: Gutierrez M
PROVIDER: S-EPMC4520020 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Gutierrez Mariana M Thiffault Isabelle I Guerrero Kether K Martos-Moreno Gabriel Á GÁ Tran Luan T LT Benko William W van der Knaap Marjo S MS van Spaendonk Rosalina M L RM Wolf Nicole I NI Bernard Geneviève G
Orphanet journal of rare diseases 20150605
POLR3-related (or 4H) leukodystrophy is an autosomal recessive disorder caused by mutations in POLR3A or POLR3B and is characterized by neurological and non-neurological features. In a small proportion of patients, no mutation in either gene or only one mutation is found. Analysis of the POLR3B cDNA revealed a large deletion of exons 21-22 in one case and of exons 26-27 in another case. These are the first reports of long deletions causing POLR3-related leukodystrophy, suggesting that deletions ...[more]