Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.
Sanfilippo type B syndrome (mucopolysaccharidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder that is caused by defective alpha- N-acetylglucosaminidase (NAGLU). We performed NAGLU gene analysis in five patients with MPS IIIB whose respective parents from the Okinawa islands in Japan were not apparently consanguineous. We found a missense mutation (R565P) in all five patients (all homozygotes). We screened this mutation in 200 healthy subjects and found one heterozygote (none of the subjects were related to the patients). These results suggest that there may be a founder effect that results in the accumulation of R565P mutation in this area.
Chinen
Yasutsugu
Y
Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0125, Japan. ychinen@med.u-ryukyu.ac.jp.
Tohma
Takaya
T
Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0125, Japan.
Izumikawa
Yoshinori
Y
Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0125, Japan.
Uehara
Hiroyuki
H
Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0125, Japan.
Ohta
Takao
T
Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0125, Japan.
D000118:Acetylglucosaminidase / Q000235:genetics*; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005820:Genetic Testing; D006801:Humans; D007564:Japan / Q000453:epidemiology; D009084:Mucopolysaccharidosis III / Q000453:epidemiology* / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D017422:Sequence Analysis, DNA
D017931:DNA Primers; C033079:alpha-N-acetyl-D-glucosaminidase; D000118:Acetylglucosaminidase