Molecular Pathogenesis of Wilson Disease Among Indians: A Perspective on Mutation Spectrum in ATP7B gene, Prevalent Defects, Clinical Heterogeneity and Implication Towards Diagnosis
IR@IICB: CSIR-Indian Institute of Chemical Biology, Kolkata
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| Title |
Molecular Pathogenesis of Wilson Disease Among
Indians: A Perspective on Mutation Spectrum in ATP7B
gene, Prevalent Defects, Clinical Heterogeneity and
Implication Towards Diagnosis
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| Creator |
Gupta, Arnab
Chattopadhyay, Ishita Dey, Sumit Nasipuri, Poonam Das, Shyamal K Gangopadhyay, Prasanta K Ray, Kunal |
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| Subject |
Molecular & Human Genetics
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| Description |
Aims We aim to identify the molecular defects in the ATP7B, the causal
gene for Wilson disease (WD), in eastern Indian patients and attempt to assess the
overall mutation spectrum in India for detection of mutant allele for diagnostic
purposes. Methods Patients from 109 unrelated families and their first-degree relatives
comprising 400 individuals were enrolled in this study as part of an ongoing project.
Genomic DNA was prepared from the peripheral blood of Indian WD patients. PCR
was done to amplify the exons and flanking regions of the WD gene followed by
sequencing, to identify the nucleotide variants. Results In addition to previous reports,
we recently identified eight mutations including three novel (c.3412 + 1G > A, c.1771
G > A, c.3091 A > G) variants, and identified patients with variable phenotype despite
similar mutation background suggesting potential role of modifier locus. Conclusions So
far we have identified 17 mutations in eastern India including five common mutations
that account for 44% of patients. Comparative study on WD mutations between
different regions of India suggests high genetic heterogeneity and the absence of a single
or a limited number of common founder mutations. Genotype–phenotype correlation
revealed that no particular phenotype could be assigned to a particular mutation and
even same set of mutations in different patients showed different phenotypes.
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| Date |
2007
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| Type |
Article
PeerReviewed |
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| Format |
application/pdf
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| Identifier |
http://www.eprints.iicb.res.in/252/1/CELLULAR_AND_MOLECULAR_NEUROBIOLOGY%2C27(_8)%2C1023%2D1033%2C2007_[11].pdf
Gupta, Arnab and Chattopadhyay, Ishita and Dey, Sumit and Nasipuri, Poonam and Das, Shyamal K and Gangopadhyay, Prasanta K and Ray, Kunal (2007) Molecular Pathogenesis of Wilson Disease Among Indians: A Perspective on Mutation Spectrum in ATP7B gene, Prevalent Defects, Clinical Heterogeneity and Implication Towards Diagnosis. Cell Mol Neurobiol, 27 (8). pp. 1023-1033. |
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| Relation |
http://dx.doi.org/10.1007/s10571-007-9192-7
http://www.eprints.iicb.res.in/252/ |
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