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First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene
Author(s) -
Larsen K. B.,
Bayat A.,
Møller R. S.,
Maroun L. L.,
Lund E. L.
Publication year - 2019
Publication title -
neuropathology and applied neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.538
H-Index - 95
eISSN - 1365-2990
pISSN - 0305-1846
DOI - 10.1111/nan.12557
Subject(s) - leukodystrophy , compound heterozygosity , medicine , pathology , gene , genetics , biology , mutation , disease
Leukodystrophies are rare inherited myelin disorders affecting the white matter of the central nervous system. In several leukodystrophies the underlying disease mechanism is well known but there is still a large group with undiscovered etiology. We report a case of sudanophilic leukodystrophy diagnosed by a post mortem neuropathological examination, in which a whole exome sequencing (WES) revealed compound heterozygous variants in PIGT. PIGT encodes phosphatidylinositol-glycan biosynthesis class T, which is a subunit of the glycosylphosphatidylinositol (GPI) transamidase complex. Inherited congenital deficiencies in GPI anchor biosynthesis and attachment comprise a subset of congenital disorders of glycosylation (CDGs). This is to the best of our knowledge the first time that neuropathological findings revealed in a post mortem examination are linked to a CDG and certainly to a PIGT-CDG. This article is protected by copyright. All rights reserved.