title: Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum.
abstract: OBJECTIVE
  To study the clinical profile and mutation spectrum of Hunter syndrome.
  
  
  METHODS
  Evaluation of 18 cases of Hunter syndrome from 17 families was done. Mutation analysis of Iduronate sulfatase (IDS) gene was done in 9 families, and mothers of four affected children with no family history.
  
  
  RESULTS
  Joint contracture, hepatomegaly and radiological changes were present in all children. 6 (33%) children had normal cognitive function at presentation. Point mutations were identified in all the 9 families for whom mutation analysis was done. Among 4 mothers tested from families without any family history, 2 (50%) were found to be carriers.
  
  
  CONCLUSIONS
  Accurate etiological diagnosis by mutation analysis of IDS gene is important in Hunter syndrome.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India. Correspondence to: Dr Kausik Mandal, Assistant Professor, Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India. mandal.kausik@gmail.com.
authors.forename: Dhanya Lakshmi
authors.initials: DL
authors.lastname: Narayanan
authors.forename: Priyanka
authors.initials: P
authors.lastname: Srivastava
authors.forename: Kausik
authors.initials: K
authors.lastname: Mandal
authors.forename: Poonam Singh
authors.initials: PS
authors.lastname: Gambhir
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
mesh_terms: D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D007194:India; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D007066:Iduronate Sulfatase