neurogenetics

, Volume 12, Issue 2, pp 117–121 | Cite as

Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1

  • Hiroyuki Ishiura
  • Yoko Fukuda
  • Jun Mitsui
  • Yasuo Nakahara
  • Budrul Ahsan
  • Yuji Takahashi
  • Yaeko Ichikawa
  • Jun Goto
  • Tetsuo Sakai
  • Shoji Tsuji
ORIGINAL ARTICLE

Abstract

Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive neurodegenerative disorder characterized by retinitis pigmentosa and sensory ataxia. Previous studies of PCARP in two families showed a linkage to 1q31–q32. However, detailed investigations on the clinical presentations as well as molecular genetics of PCARP have been limited. Here, we describe a Japanese consanguineous family with PCARP. Two affected siblings suffered from childhood-onset retinitis pigmentosa and slowly progressive sensory ataxia. They also showed mild mental retardation, which has not been described in patients with PCARP. Parametric linkage analysis using high-density single nucleotide polymorphism arrays supported a linkage to the same locus. Target capture and high-throughput sequencing technologies revealed a novel homozygous c.1477G>C (G493R) mutation in FLVCR1, which cosegregated with the disease. A recent study has identified three independent mutations in FLVCR1 in the original and other families. Our results further confirmed that PCARP is caused by mutations in FLVCR1.

Keywords

Posterior column ataxia with retinitis pigmentosa Linkage analysis Target capture Massively parallel sequencing FLVCR1 

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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Hiroyuki Ishiura
    • 1
  • Yoko Fukuda
    • 1
  • Jun Mitsui
    • 1
  • Yasuo Nakahara
    • 1
  • Budrul Ahsan
    • 1
  • Yuji Takahashi
    • 1
  • Yaeko Ichikawa
    • 1
  • Jun Goto
    • 1
  • Tetsuo Sakai
    • 2
  • Shoji Tsuji
    • 1
  1. 1.Department of Neurology, Graduate School of MedicineThe University of TokyoTokyoJapan
  2. 2.Department of NeurologyHimeno HospitalFukuokaJapan

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