A case of hypomyelinating leukodystrophy with new homozygous mutation in <i>POLR3A </i>

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  • Tamura Asako
    Department of Neurology, Mie University Graduate School of Medicine
  • Niwa Atsushi
    Department of Neurology, Mie University Graduate School of Medicine
  • Ii Yuichiro
    Department of Neurology, Mie University Graduate School of Medicine
  • Sasaki Ryogen
    Department of Neurology, Mie University Graduate School of Medicine
  • Tomimoto Hidekazu
    Department of Neurology, Mie University Graduate School of Medicine
  • Saitsu Hirotomo
    Department of Human Genetics, Graduate School of Medicine, Yokohama City University

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Other Title
  • 新規<i>POLR3A</i>遺伝子変異をみとめた大脳白質形成不全症の1例
  • 症例報告 新規POLR3A遺伝子変異をみとめた大脳白質形成不全症の1例
  • ショウレイ ホウコク シンキ POLR3A イデンシ ヘンイ オ ミトメタ ダイノウ ハクシツ ケイセイ フゼンショウ ノ 1レイ
  • A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A

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Abstract

We describe a 34-year-old man with hypomyelination, hypogonadotropic hypogonadism, ataxia, and myopia without hypodontia. He was born to non-consanguineous parents, and had an elder brother who showed a similar phenotype. Laboratory studies demonstrated low level of LH, FSH and testosterone. MRI showed hypomyelination, atrophy of the cerebellum and the hypoplastic corpus callosum. Homozygous missensze mutation c.2350G>A (p.Gly784Ser) was found in POLR3A,which codes for the largest subunit of RNA polymerase III. Since PolIII-related leukodystrophies shows various combination of neurologic and non-neurologic features, additional reports will help to confirm the mechanism of this disease.

Journal

  • Rinsho Shinkeigaku

    Rinsho Shinkeigaku 53 (8), 624-629, 2013

    Societas Neurologica Japonica

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