Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum.

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.