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Published on: August 8, 2022
Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum
Dhanya Lakshmi Narayanan1, Priyanka Srivastava, Kausik Mandal
1Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India. Correspondence to: Dr Kausik Mandal, Assistant Professor, Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India. mandal.kausik@gmail.com.
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.
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