A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA |
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Authors: | Z Kato Seiji Fukuda Shunji Tomatsu Hugo Vega Teruo Yasunaga Atsushi Yamagishi Naoto Yamada A Valencia Luis Alejandro Barrera Kazuko Sukegawa Tadao Orii Naomi Kondo |
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Institution: | (1) Department of Pediatrics, Gifu University School of Medicine, 40 Tsukasa, Gifu 500, Japan Tel.: +81-58-267-2817; Fax: +81-58-265-9011 e-mail: zenk-gif@umin.u-tokyo.ac.jp, JP;(2) Centro de Investigaciones en Bioquimica, Universidad de los Andes, Bogota, Colombia, CO;(3) Genome Information Research Center, Osaka University, Yamadaoka 3–1, Suita, Osaka 565, Japan, JP;(4) Chubu Women’s College, 4903–3 Kurachi-Kouyama, Seki 501–32, Japan, JP |
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Abstract: | Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in N-acetylgalactosamine-6-sulfate
sulfatase (GALNS). In previous studies, we have found two common mutations in Caucasians and Japanese, respectively. To characterize
the mutational spectrum in various ethnic groups, mutations in the GALNS gene in Colombian MPS IVA patients were investigated,
and genetic backgrounds were extensively analyzed to identify racial origin, based on mitochondrial DNA (mtDNA) lineages.
Three novel missense mutations never identified previously in other populations and found in 16 out of 19 Colombian MPS IVA
unrelated alleles account for 84.2% of the alleles in this study. The G301C and S162F mutations account for 68.4% and 10.5%
of mutations, respectively, whereas the remaining F69V is limited to a single allele. The skewed prevalence of G301C in only
Colombian patients and haplotype analysis by restriction fragment length polymorphisms in the GALNS gene suggest that G301C
originated from a common ancestor. Investigation of the genetic background by means of mtDNA lineages indicate that all our
patients are probably of native American descent.
Received: 2 January 1997 / Accepted: 10 June 1997 |
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