SCA-LSVD: A Repeat-Oriented Locus-Specific Variation Database for Genotype to Phenotype Correlations in Spinocerebellar Ataxias

Faruq, Mohammed and Scaria, Vinod and Singh, Inder and Tyagi, Shivani and Srivastava, Achal K. and Mukerji, Mitali (2009) SCA-LSVD: A Repeat-Oriented Locus-Specific Variation Database for Genotype to Phenotype Correlations in Spinocerebellar Ataxias. PubMed, 30 (7). pp. 1037-1042.

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Abstract

ABSTRACT: Repeat expansion has been implicated in 10 out of 17 candidate genes identified for autosomal dominant cerebellar ataxias (ADCAs)—commonly referred as spinocerebellar ataxias (SCAs). Though genetically distinct, the SCAs share a large number of features that confound their clinical classification. In addition, there is a difference in the prevalence and phenotypic expression of ataxias between different ethnic groups. We have created a new SCA-locus-specific variation database (LSVD) that aims to catalog and integrate information on SCAs associated with trinucleotide repeat expansion (SCA1, SCA 2, SCA 3, SCA 6, SCA 7, SCA 8, SCA 12, SCA 17, Friedreich’s ataxia [FRDA], and dentatorubral-pallidoluy- sian atrophy [DRPLA]) from all over the world. The database has been developed using the Leiden Open (source) Variation Database (LOVD) software (Leiden University Medical Center, Leiden, the Netherlands). The database houses detailed information on clinical features, such as age and symptom at onset, mode of inheritance, and genotype information, pertaining to the SCA patients from more than 400 families across India. All the compiled genotype data conforms to the HGVS Nomenclature guidelines. This would be a very useful starting point for understanding the molecular correlates of phenotypes in ataxia—a multilocus disease in which related molecular mechanisms converge to overlapping phenotypes. The database is accessible online at http://miracle.igib.res.in/ ataxia. Hum Mutat 30:1037–1042, 2009. & 2009 Wiley-Liss, Inc. KEY WORDS: SCA-LSVD; variation database; trinucleo- tide repeats; ataxia

Item Type: Article
Subjects: G Genome informatics > G1 Genome informatics (General)
Divisions: Faculty of Genome informatics and Structural Biology > School of Genome informatics
Depositing User: Raghu MV
Date Deposited: 27 Dec 2011 09:21
Last Modified: 28 Feb 2012 05:46
URI: http://openaccess.igib.res.in/id/eprint/96

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