Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery
A Eliot ShearerRichard J H Smith

Abstract

Comprehensive genetic testing has become integral in the evaluation of children with deafness, but the amount of blood required to obtain DNA can be prohibitive in newborns. Dried blood spots (DBSs) are routinely collected and would provide an alternative source of DNA. Our objective was to evaluate the use of DBSs for comprehensive genetic testing for deafness. DNA derived from fresh and archived DBS samples was compared with DNA from whole blood. We performed next-generation sequencing of all known deafness genes in 4 DBS samples: 2 positive controls, an unknown sample, and a negative control. The DBS-derived DNA was of sufficient quantity and quality for clinical testing. In the 2 positive control samples, pathogenic variants were identified; in the negative control, no pathogenic variants were found; and in the unknown sample, homozygous deletion of the OTOA gene was identified as the cause of deafness. This pilot study shows that comprehensive genetic testing for deafness is feasible with fresh and/or archived DBSs.

References

Mar 9, 2005·Lancet·Richard J H SmithKarl R White
Oct 22, 2011·Hearing Research·A Eliot ShearerRichard J H Smith
Sep 5, 2014·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·Jenny X ChenJennifer J Shin
Sep 26, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Arindam BhattacharjeeEdwin W Naylor
Jun 19, 2015·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·A Eliot Shearer, Richard J H Smith
Mar 13, 2016·Human Genetics·Christina M Sloan-HeggenRichard J H Smith
Oct 13, 2016·International Journal of Pediatric Otorhinolaryngology·Bryan J LimingRichard J H Smith

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Citations

Aug 28, 2020·Current Environmental Health Reports·Bryttany McClendon-WearyEdwina Yeung
Jul 16, 2019·Otolaryngologic Clinics of North America·C Carrie LiuDavid L Horn

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Methods Mentioned

BETA
electrophoresis

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