Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.
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.
Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Hiroyuki
H
Ishiura
Yoko
Y
Fukuda
Jun
J
Mitsui
Yasuo
Y
Nakahara
Budrul
B
Ahsan
Yuji
Y
Takahashi
Yaeko
Y
Ichikawa
Jun
J
Goto
Tetsuo
T
Sakai
Shoji
S
Tsuji
D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001259:Ataxia / Q000235:genetics*; D001483:Base Sequence; D005190:Family; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000502:physiology; D010375:Pedigree; D011991:Receptors, Virus / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*
C492690:FLVCR1 protein, human; D026901:Membrane Transport Proteins; D011991:Receptors, Virus
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