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Recurrent and novel GLB1 mutations in India.
Bidchol, Abdul Mueed; Dalal, Ashwin; Trivedi, Rakesh; Shukla, Anju; Nampoothiri, Sheela; Sankar, V H; Danda, Sumita; Gupta, Neerja; Kabra, Madhulika; Hebbar, Shrikiran A; Bhat, Ramesh Y; Matta, Divya; Ekbote, Alka V; Puri, Ratna Dua; Phadke, Shubha R; Gowrishankar, Kalpana; Aggarwal, Shagun; Ranganath, Prajnya; Sharda, Sheetal; Kamate, Mahesh; Datar, Chaitanya A; Bhat, Kamalakshi; Kamath, Nutan; Shah, Hitesh; Krishna, Shuba; Gopinath, Puthiya Mundyat; Verma, Ishwar C; Nagarajaram, H A; Satyamoorthy, Kapaettu; Girisha, Katta Mohan.
Afiliación
  • Bidchol AM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
  • Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.
  • Trivedi R; Laboratory of Computational Biology & Bioinformatics Facility, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India; Graduate Studies, Manipal University, Manipal, Karnataka, India.
  • Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
  • Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Kochi, AIMS Ponekkara, Kerala, India.
  • Sankar VH; Genetic Clinic, Department of Pediatrics, SAT Hospital, Government Medical College, Thiruvananthapuram, Kerala, India.
  • Danda S; Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
  • Gupta N; Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Kabra M; Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Hebbar SA; Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
  • Bhat RY; Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
  • Matta D; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.
  • Ekbote AV; Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
  • Puri RD; Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.
  • Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
  • Gowrishankar K; Department of Medical Genetics, Childs Trust Medical Research Foundation, Kanchi Kamakoti Childs Trust Hospital, Chennai, Tamil Nadu, India.
  • Aggarwal S; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
  • Ranganath P; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
  • Sharda S; Post Graduate Institute of Medical Education and Research, Chandigarh, Punjab, India.
  • Kamate M; Pediatric Neurology, KLE University's J N Medical College, Belgaum, Karnataka, India.
  • Datar CA; Rare Genetic Disorder Clinic, Sahyadri Hospital, Pune, Maharashtra, India.
  • Bhat K; Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal University, Karnataka, India.
  • Kamath N; Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal University, Karnataka, India.
  • Shah H; Pediatric Orthopedics Services, Department of Orthopedics, Kasturba Medical College, Manipal, Manipal University, Karnataka, India.
  • Krishna S; Strand Life Sciences Pvt Ltd, Bengaluru, Karnataka, India.
  • Gopinath PM; Division of Biotechnology, School of Life Sciences, Manipal University, Manipal, Karnataka, India.
  • Verma IC; Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.
  • Nagarajaram HA; Laboratory of Computational Biology & Bioinformatics Facility, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.
  • Satyamoorthy K; Division of Biotechnology, School of Life Sciences, Manipal University, Manipal, Karnataka, India.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India. Electronic address: girish.katta@manipal.edu.
Gene ; 567(2): 173-81, 2015 Aug 10.
Article en En | MEDLINE | ID: mdl-25936995
GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in the GLB1 gene, leading to the deficiency of the enzyme ß-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 GLB1 are recurrent across different populations. Twenty three mutations were localized in the TIM barrel domain, ß-domain 1 and ß-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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Gangliosidosis GM1 / Beta-Galactosidasa Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: Gene Año: 2015 Tipo del documento: Article País de afiliación: India Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Gangliosidosis GM1 / Beta-Galactosidasa Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: Gene Año: 2015 Tipo del documento: Article País de afiliación: India Pais de publicación: Países Bajos