Sanfilippo Type B Syndrome: Five Patients with an R565P Homozygous Mutation in the Alpha-N-acetylglucosaminidase Gene from the Okinawa Islands in Japan

Overview

Journal J Hum Genet

Specialty Genetics

Date 2005 Jun 4

PMID 15933803

Citations 9

Authors

Yasutsugu Chinen

Takaya Tohma

Yoshinori Izumikawa

Hiroyuki Uehara

Takao Ohta

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.

Kim M, Yang A, Noh E, Kim C, Bae G, Lim H J Pers Med. 2022; 12(5).

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Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities.

Puckett Y, Mallorga-Hernandez A, Montano A Orphanet J Rare Dis. 2021; 16(1):241.

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Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.

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Avoiding diagnostic delay for mucopolysaccharidosis IIIB: do not overlook common clues such as wheezing and otitis media.

Yodoshi T, Hurt T BMJ Case Rep. 2018; 2018.

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Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.

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