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A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.

ABSTRACT: We report a case of two siblings with progressive myoclonus epilepsy whose parents were not consanguineous. Their clinical symptoms were typical of Lafora disease (LD), but skin biopsies revealed no Lafora bodies. Whole-exome sequencing identified a recurrent homozygous frameshift variant in the NHLRC1 gene in both siblings. The genetic analysis was useful for the diagnosis of LD, as neither consanguinity nor Lafora bodies were found.

SUBMITTER: Araya N 

PROVIDER: S-EPMC6043589 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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A recurrent homozygous <i>NHLRC1</i> variant in siblings with Lafora disease.

Araya Nami N   Takahashi Yukitoshi Y   Shimono Masayuki M   Fukuda Tomofumi T   Kato Mitsuhiro M   Nakashima Mitsuko M   Matsumoto Naomichi N   Saitsu Hirotomo H  

Human genome variation 20180712

We report a case of two siblings with progressive myoclonus epilepsy whose parents were not consanguineous. Their clinical symptoms were typical of Lafora disease (LD), but skin biopsies revealed no Lafora bodies. Whole-exome sequencing identified a recurrent homozygous frameshift variant in the <i>NHLRC1</i> gene in both siblings. The genetic analysis was useful for the diagnosis of LD, as neither consanguinity nor Lafora bodies were found. ...[more]

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