Journal of Pharmacogenomics & Pharmacoproteomics

Clinical and molecular analysis of patients with Morquio Syndrome and GM1 gangliosidosis

7^th International Conference on Predictive, Preventive and personalized Medicine & Molecular Diagnostics

October 05-06, 2017 Chicago, USA

Abdul Mueed Bidchol

Manipal University, India

Posters & Accepted Abstracts: J Pharmacogenomics Pharmacoproteomics

Abstract:

Morquio A syndrome and GM1 gangliosidosis are lysosomal storage diseases caused by deficiencies of N-acetylgalactosamine6-sulfatase (GALNS) and β-galactosidase (β-GAL) respectively, due to the mutations in the genes coding for these enzymes. To further characterize the phenotype and the mutation spectrum for these conditions, we analyzed the clinical profiles of Indian patients with these conditions and identified the mutations in the GALNS and GLB1 genes. All the exons and the adjacent intronic sequences of GALNS and GLB1 were amplified and sequenced. We performed in silico and structural analyses of novel mutations identified in this study. We identified 57 different mutations in GALNS in 110 families, of which 31 were novel and 26 were previously reported. We also found 42 different mutations in GLB1 in 62 families, of which 26 were novel and 16 were already reported. We identified the most common mutations in GALNS and GLB1, and noted a higher frequency of mutations in exons 1, 8 and 7 of GALNS and exons 1, 14 and 10 of GLB1. We propose a diagnostic strategy to identify the mutations in GALNS and GLB1 in Indian patients with these conditions. In silico and structural analyses of GALNS and GLB1 revealed that all novel mutations affect the function and structure of the proteins. This study presents the largest series of patients with Morquio A syndrome and GM1 gangliosidosis and is the first from India. This study has helped prenatal diagnosis and genetic counselling of affected families.