黏多糖贮积症ⅣB型一例临床特点及GLB1基因突变分析

黏多糖贮积症ⅣB型一例临床特点及GLB1基因突变分析

雷红林;叶军;邱文娟;张惠文;韩连书;顾学范

【期刊名称】《中华儿科杂志》 【年(卷),期】2012(050)007

【摘要】Objective To report the results of clinical characteristics, enzyme activity determination and mutation analysis of GLB1 gene in a Chinese patient with mucopolysaccharidosis (MPS) type Ⅳ B (Morquio B disease ).Method A 14-year-old Chinese boy with MPS type Ⅳ B was firstly diagnosed by blood leucocytes galactosamine-6-sulfate sulfatase (GALNS)

and

β-galactosidase

(GLB1)

determination,who

was

characterized by short stature,multiplex skeletal abnormalities,difficulty in walking.PCR-sequencing analysis was applied to detect the mutations in GLB1 of the patient.Result The patient was characterized by dwarfism,pectus

carinatum,kyphosis,normal

intelligence,and

no

neurologic damage of spasms,linguistic capacity and so on.The patient had normal GALNS enzyme activity and very low GLB1 enzyme activity [5.03 nmol/(h · mg) vs.normal value 118 -413 nmol/(h · mg) ] in leukocytes.A compound heterozygous missense mutations c.442C ＞ T( p.R148C)/c.1454A ＞ G( p.Y485C) in GLB1 gene were detected in this patient.The mutation p.Y485C is a novel variant.With the method of gene analysis of new variant,the mutation p.Y485C was considered to be a pathogenic mutation.Conclusion The MPS ⅣB patient showed severe