69 239

Cited 0 times in

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

Sohn, YB; Park, HD; Park, SW; Kim, SH; Cho, SY; Ko, AR; Ki, CS; Yeau, S; Jin, DK
Annals of clinical and laboratory science, 42(1):89-93, 2012
Journal Title
Annals of clinical and laboratory science
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
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
AJOU Authors
손, 영배
Full Text Link
Files in This Item:
fulltext not available.txtDownload
RIS (EndNote)
XLS (Excel)


해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.