Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum.
Indian Pediatr
;
2016 Feb; 53(2): 134-136
Article
in English
| IMSEAR
| ID: sea-178868
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Type of study:
Prognostic study
Language:
English
Journal:
Indian Pediatr
Year:
2016
Type:
Article
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