作者
Abdul Mueed Bidchol, Ashwin Dalal, Rakesh Trivedi, Anju Shukla, Sheela Nampoothiri, VH Sankar, Sumita Danda, Neerja Gupta, Madhulika Kabra, Shrikiran A Hebbar, Ramesh Y Bhat, Divya Matta, Alka V Ekbote, Ratna Dua Puri, Shubha R Phadke, Kalpana Gowrishankar, Shagun Aggarwal, Prajnya Ranganath, Sheetal Sharda, Mahesh Kamate, Chaitanya A Datar, Kamalakshi Bhat, Nutan Kamath, Hitesh Shah, Shuba Krishna, Puthiya Mundyat Gopinath, Ishwar C Verma, HA Nagarajaram, Kapaettu Satyamoorthy, Katta Mohan Girisha
发表日期
2015/8/10
期刊
Gene
卷号
567
期号
2
页码范围
173-181
出版商
Elsevier
简介
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 report molecular 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.246-2A>G, c.397-2A>G, c.552+1G>T, c.956-2A>G), 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 these mutations in …
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AM Bidchol, A Dalal, R Trivedi, A Shukla… - Gene, 2015