Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA |
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Authors: | Hyung‐Doo Park Ah‐Ra Ko Chang‐Seok Ki Soo‐Youn Lee Jong‐Won Kim Sung Yoon Cho Se Hwa Kim Sung Won Park Young Bae Sohn Dong‐Kyu Jin |
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Institution: | 1. Departments of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea;2. Clinical Research Center, Samsung Biomedical Research Institute, Seoul, Korea;3. Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea;4. Department of Medical Genetics, Ajou University Hospital, Ajou University school of Medicine, Suwon, Korea |
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Abstract: | Mucopolysaccharidosis IVA (MPS IVA; OMIM #253000) is caused by the deficiency of N‐acetylgalactosamine‐6‐sulfate sulfatase (GALNS), a lysosomal enzyme involved in the catabolism of keratan and chondroitin sulfate. In this study, we examined biochemical and genetic data from 6 Korean patients presenting with classic MPS IVA by measuring GALNS activity in peripheral blood leukocytes and skin fibroblasts. We initially identified Korean patients with MPS IVA by clinical, biochemical, and genetic analyses. We performed PCR‐direct sequencing to identify molecular defects of the GALNS gene in patients and assessed the mutational statuses of family members as well as 50 healthy unrelated subjects. In silico analyses were performed to check for novel mutations. The mean age of the six female patients was 8.0 ± 5.2 years (range: 2–17 years), and were all found to have severe reductions of GALNS enzyme. A total of 12 mutant alleles were identified, corresponding to 7 different mutations. Five novel mutations were c.218A>G (p.Y73C), c.451C>A (p.P151T), c.725C>G (p.S242C), c.752G>A (p.R251Q), and c.1000C>T (p.Q334X). Two other mutations were c.1156C>T (p.R386C) and c.1243‐1G>A. Two mutations, c.451C>A and c.1000C>T, accounted for 58% of all mutations in this sample. © 2013 Wiley Periodicals, Inc. |
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Keywords: | GALNS mucopolysaccharidosis type IVA Korean novel mutation |
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