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.
Conclusion
Accurate etiological diagnosis by mutation analysis of IDS gene is important in Hunter syndrome.
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Narayanan, D.L., Srivastava, P., Mandal, K. et al. Hunter syndrome in northern India: Clinical features and mutation spectrum. Indian Pediatr 53, 134–136 (2016). https://doi.org/10.1007/s13312-016-0807-2
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DOI: https://doi.org/10.1007/s13312-016-0807-2