ArticleNeurogenetics2025
A monoallelic 8q24.3-duplication involving a single protein encoding TSNARE1 gene may be linked to a new leukodystrophy.
Article in Neurogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
TSNARE1 regulates the endolysosomal membrane trafficking in cortical neurons and its overexpression might be associated with schizophrenia, but no definitive link to this or any other human pathology has been established yet. Here we present the heterozygous de novo 8q24.3 duplication, involving TSNARE1, in a 38-year-old woman with a juvenile-onset leukodystrophy and with no cerebrospinal fluid positivity. Her 10-year-old healthy daughter harbours the same duplication. These results and data in the literature led us to hypothesize that this unexplained demyelinating disease might represent a novel leukodystrophy linked to overexpression of TSNARE1, however, more data are needed to confirm this hypothesis.
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