title: [Analysis of clinical features and GALNS gene mutation in a patient with mucopolysaccharidosis type IV A].
abstract: OBJECTIVE
  To detect potential mutation of galactosamine-6-sulfate (GALNS) gene in a Chinese girl affected with mucopolysaccharidosis type IV A (Morquio A syndrome).
  
  
  METHODS
  The patient was diagnosed by assaying the activities of mucopolysaccharidosis-related enzymes in leukocytes. Potential mutation in the GALNS gene was detected with PCR and Sanger sequencing.
  
  
  RESULTS
  The patient was characterized by short stature, skeletal deformities, normal intelligence, and auditory dysfunction. The activities of GALNS enzymes were low. A compound heterozygous missense mutation, c.1094G>T (p.Gly365Val)/c.938C>T (p.Thr313Met), was detected in the GALNS gene. The mutations were respectively inherited from her father and mother. Among them, the c.1094G>T (p.Gly365Val) mutation was not reported previously.
  
  
  CONCLUSIONS
  The mutations c.1094G>T (p.Gly365Val)/c.938C>T (p.Thr313Met) probably underlie the pathogenesis of the disease in our patient.
authors.affiliation: Department of Endocrinologic, Genetic and Metabolic Diseases, Zhengzhou Children's Hospital, Zhengzhou, Henan 450000, China. haiyanwei2009@163.com.
authors.forename: Qiong
authors.initials: Q
authors.lastname: Chen
authors.forename: Yongxing
authors.initials: Y
authors.lastname: Chen
authors.forename: Xiaojing
authors.initials: X
authors.lastname: Liu
authors.forename: Haiyan
authors.initials: H
authors.lastname: Wei
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002811:Chondroitinsulfatases / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009085:Mucopolysaccharidosis IV / Q000201:enzymology* / Q000235:genetics*; D017354:Point Mutation
chemical_list: D002811:Chondroitinsulfatases; C102295:GALNS protein, human