Abstract
Norrie Disease (ND) is a rare X-linked recessive disorder characterised by congenital blindness due to severe retinal dysgenesis. Hearing loss and intellectual disability is present in 30–50 % cases. ND is caused by mutations in the NDP gene, located at Xp11.3. The authors describe mutation analysis of a proband with ND and subsequently prenatal diagnosis. Sequence analysis of the NDP gene revealed a hemizygous missense mutation arginine to serine in codon 41 (p.Arg41Ser) in the affected child. Mother was carrier for the mutation. In a subsequent di-chorionic di-amniotic pregnancy, the authors performed prenatal diagnosis by mutation analysis on chorionic villi sample at 11 wk of gestation. The fetuses were unaffected. This is a first mutation report and prenatal diagnosis of a familial case of Norrie disease from India. The importance of genetic testing of Norrie disease for confirmation, carrier testing, prenatal diagnosis and genetic counseling is emphasized.
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Acknowledgements
The authors thank Dr. Katherine B Sims, Neurogenetic DNA Diagnostic Lab, Boston, MA, USA, for the mutation analysis in the affected boy with Norrie Disease. The authors also thank the family for their cooperation and permission to publish this report.
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Ghosh, M., Sharma, S., Shastri, S. et al. Norrie Disease: First Mutation Report and Prenatal Diagnosis in an Indian Family. Indian J Pediatr 79, 1529–1531 (2012). https://doi.org/10.1007/s12098-012-0788-7
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DOI: https://doi.org/10.1007/s12098-012-0788-7