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<p>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 <i>de novo</i> 8q24.3 duplication, involving <i>TSNARE1</i>, 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 <i>TSNARE1</i>, however, more data are needed to confirm this hypothesis.</p>

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A monoallelic 8q24.3-duplication involving a single protein encoding TSNARE1 gene may be linked to a new leukodystrophy

  • 期刊论文

  • 发表日期：

    2025年8月2日

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  • Anton Karabinos,
  • Erika Tomkova,
  • Katarina Tothova,
  • Miroslava Eckertova,
  • Michaela Hyblova,
  • Gabriela Magyarova,
  • Peter Krizan

摘要

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.