Computational protocol: A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings

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[…] Microsatellite markers near the DFNA1, DFNA11, DFNA4/16/38 and DFNA54 loci were analyzed in seven family members. PCR products were multiplexed and separated by capillary electrophoresis on an ABI PRISM 310 Genetic Analyzer (PE Biosystems, Foster City, CA). Amplification products were sized according to CEPH (Centre d'Etude du Polymorphisme Humain) control DNA (1347-02) and assigned allele numbers consistent with the CEPH designations []. The inheritance pattern of the hearing loss was assumed to be autosomal dominant and fully penetrant.PCR primers for exons 1–8 and the immediate intron flanking regions were designed with the Primer 3 web-based program [] and used to analyze the WFS1 gene in one unaffected and two affected family members (primer sequences available upon request). PCR incubation mixture, thermocycling conditions, and purification procedures for genomic amplification and sequencing were performed as described previously [,]. Electropherograms were analyzed using the CodonCode Aligner software package (CodonCode Corporation, Dedham, MA).The C-terminus region of wolframin (amino acids 657–890) was analyzed using The PSIPRED Structure Prediction Server [-] and FoldIndex []. […]

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