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

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Neurogenetics : Volume 12, Issue 1, February 2011

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

Content Provider	Springer Nature Link
Author	Ishiura, Hiroyuki Fukuda, Yoko Mitsui, Jun Nakahara, Yasuo Ahsan, Budrul Takahashi, Yuji Ichikawa, Yaeko Goto, Jun Sakai, Tetsuo Tsuji, Shoji
Copyright Year	2011
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.
Starting Page	117
Ending Page	121
Page Count	5
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	12
Issue Number	2
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2011-01-26
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Posterior column ataxia with retinitis pigmentosa Linkage analysis Target capture Massively parallel sequencing FLVCR1 Neurosciences Human Genetics Molecular Medicine
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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