Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum.
| dc.contributor.author | Narayanan, Dhanya Lakshmi | |
| dc.contributor.author | Srivastava, Priyanka | |
| dc.contributor.author | Mandal, Kausik | |
| dc.contributor.author | Gambhir, Poonam Singh | |
| dc.contributor.author | Phadke, Shubha R | |
| dc.date.accessioned | 2016-11-25T07:01:53Z | |
| dc.date.available | 2016-11-25T07:01:53Z | |
| dc.date.issued | 2016-02 | |
| dc.description.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. | en_US |
| dc.identifier.citation | Dhanya 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. | en_US |
| dc.identifier.uri | https://imsear.searo.who.int/handle/123456789/178868 | |
| dc.language.iso | en | en_US |
| dc.source.uri | https://www.indianpediatrics.net/feb2016/feb-134-136.htm | en_US |
| dc.subject | Diagnosis | en_US |
| dc.subject | Iduronate sulfatase gene | en_US |
| dc.subject | Lysosomal storage disorder | en_US |
| dc.subject | Presentation | en_US |
| dc.title | Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum. | en_US |
| dc.type | Article | en_US |