Narayanan, Dhanya LakshmiSrivastava, PriyankaMandal, KausikGambhir, Poonam SinghPhadke, Shubha R2016-11-252016-11-252016-02Dhanya Lakshmi Narayanan, Priyanka Srivastava, Kausik Mandal, Poonam Singh Gambhir and Shubha R Phadke. Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum. Indian Pediatrics. 2016 Feb; 53(2): 134-136.http://imsear.searo.who.int/handle/123456789/178868Objective: 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.enDiagnosisIduronate sulfatase geneLysosomal storage disorderPresentationArticle