Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.

doi:10.1186/s12883-019-1489-x

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Article

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.

BMC neurology - 27 Oct 2019

Den Kouhei, Kudo Yosuke, Kato Mitsuhiro, Watanabe Kosuke, Doi Hiroshi, Tanaka Fumiaki, Oguni Hirokazu, Miyatake Satoko, Mizuguchi Takeshi, Takata Atsushi, Miyake Noriko, Mitsuhashi Satomi, Matsumoto Naomichi

Abstract excerpt

BACKGROUND: We encountered two unrelated individuals suffering from neurological disorders, including epilepsy and scoliosis. CASE PRESENTATION: Whole-exome sequencing identified the same recurrent, de novo, pathogenic variant in NUS1 [NM_138459.4:c.691 + 1C > A] in both individuals. This variant is located in the conserved cis-prenyltransferase domain of the nuclear undecaprenyl pyrophosphate synthase 1 gene...

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PMID: 31656175
DOI: 10.1186/s12883-019-1489-x
PMCID: PMC6815447

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