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Updated: Oct 5, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A novel c.1937T>C (p.Leu646Pro) missense mutation in a patient with Leber congenital amaurosis
Savleen Kaur1, Jaspreet Sukhija1, Anupriya Kaur2
1Department of Ophthalmology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Abstract:
Over 21 genes have been associated with the inherited retinal dystrophy, Leber congenital amaurosis (LCA). A comprehensive genotype-phenotype correlation in such heterogenous cases helps guide further genetic studies and therapies. We report 2 children (10-month-old girl and an 8-month-old boy) who presented with low vision in the first year of life. Both patients manifested nystagmus, sluggish pupillary reactions, hyperopia, and normal fundus. Focussed exome sequencing was performed because LCA was suspected. A novel c.1937T>C (p.Leu646Pro) missense mutation was found in exon 9 of the tyrosine kinase domain of the GUCY2D gene in both patients.
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