A Korean Patient with Morquio B Disease with a Novel c.13_14insA Mutation in the GLB1 gene

作者：Sohn Young Bae; Park Hyung Doo; Park Sung Won; Kim Se Hwa; Cho Sung Yoon; Ko Ah Ra; Ki Chang Seok; Yeau Sunghee; Jin Dong Kyu^*

来源：Annals of Clinical and Laboratory Science, 2012, 42(1): 89-93.

• GLB1
• mutation
• Morquio B disease
• GM1-gangliosidosis

Mutations in the GLB1 gene, which encodes acid beta-galactosidase, can result in two disease phenotypes: GM1-gangliosidosis (MIM #230500) and Morquio B disease (Mucopolysaccharidosis type IVB, MIM #253010). Morquio B disease occurs much more infrequently than GM1-gangliodosis and is characterized by severe skeletal manifestations (dysostosis multiplex) without central nervous system involvement. Here, we report the first known Korean patient with Morquio B disease. A 7-year-old boy presented with severe progressive skeletal dysplasia including scoliosis, contractures of the elbows, xenu valgum, funnel chest, and trigger thumb requiring surgical intervention. The patient had normal neurological functions and mental status when evaluated by pediatric neurologists. The patient%26apos;s urinary glycosaminoglycans, measured by the cetylpyridinium chloride (CPC) precipitation test, were 252.8 CPC unit/g creatinine (reference range %26lt; 175). Thin layer chromatography of urine showed a keratan sulfate band. Enzyme activity of beta-galactosidase in leukocytes was 1.15 nmol/hr/mg protein (reference range 78.1-117.7; 1-1.5% of normal). The patient had compound heterozygous mutations of the GLB1 gene: c.13_14insA (p.L5HfsX29), which was reported in a patient with infantile GM1 gangliosidosis with the near-complete absence of enzyme activity, and c.367G%26gt;A (p.G123R), which is a novel frame-shift mutation. In summary, we report the first known Korean patient with Morquio B disease and a novel mutation (c.13_14insA of GLB1).

• 出版日期2012