Recurrent and novel GLB1 mutations in India

Bhat, Kamalakshi G. (2015) Recurrent and novel GLB1 mutations in India. Gene. pp. 1-9. ISSN 0378-1119

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Abstract

GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in the GLB1 gene, leading to the deficiency of the enzyme β-D-galactosidase. In this study,we reportmolecular findings in 50 Asian Indian families with GM1 gangliosidosis. We sequenced all the exons and flanking intronic sequences of GLB1 gene. We identified 33 different mutations (20 novel and 13 previously reported). The novel mutations include 12 missense (p.M1?, p.E129Q, p.G134R, p.L236P, p.G262E, p.L297F, p.Y331C, p.G414V, p.K493N, p.L514P, p.P597L, p.T600I), four splicing (c.246-2ANG, c.397-2ANG, c.552+1GNT, c.956-2ANG), three indels (p.R22Qfs*8, p.L24Cfs*47, p.I489Qfs*4) and one nonsense mutation (p.Q452*). Most common mutations identified in this study were c.75+2InsT (14%) and p.L337P (10%). Known mutations accounted for 67% of allele frequency in our cohort of patients, suggesting that thesemutations in GLB1 are recurrent across different populations. Twenty three mutations were localized in the TIM barrel domain, β-domain 1 and β-domain 2. In silico sequence and structure analysis of GLB1 reveal that all the novel mutations affect the function and structure of the protein. We hereby report on the largest series of patients with GM1 gangliosidosis and the first from India

Item Type: Article
Uncontrolled Keywords: GM1 gangliosidosis Mutation India GLB1 gene
Subjects: Medicine > KMC Mangalore > Paediatrics
Depositing User: KMCMLR User
Date Deposited: 07 Oct 2016 14:29
Last Modified: 07 Oct 2016 14:29
URI: http://eprints.manipal.edu/id/eprint/147100

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