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A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene

Authors
Sohn, YB; Park, HD; Park, SW; Kim, SH; Cho, SY; Ko, AR; Ki, CS; Yeau, S; Jin, DK
Citation
Annals of clinical and laboratory science, 42(1):89-93, 2012
Journal Title
Annals of clinical and laboratory science
ISSN
0091-73701550-8080
Abstract
Mutations in the GLB1 gene, which encodes acid β-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's urinary glycosaminoglycans, measured by the cetylpyridinium chloride (CPC) precipitation test, were 252.8 CPC unit/g creatinine (reference range 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).
MeSH terms
Asian Continental Ancestry Group/*geneticsBase SequenceChildDNA Mutational AnalysisHumansMaleMolecular Sequence DataMucopolysaccharidosis IV/*enzymology/*genetics/radiographyMutation/*geneticsPolymerase Chain ReactionRepublic of Koreabeta-Galactosidase/*genetics
PMID
22371915
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
AJOU Authors
손, 영배
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