Hunter syndrome in northern India: Clinical features and mutation spectrum

Dhanya Lakshmi Narayanan, Priyanka Srivastava, Kausik Mandal, Poonam Singh Gambhir, Shubha R. Phadke

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)134-136
Number of pages3
JournalIndian Pediatrics
Issue number2
Publication statusPublished - 01-02-2016

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health


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