An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis

Journal of Human Genetics
Naoko SakumaShin-Ichi Usami

Abstract

The diagnosis of the genetic etiology of deafness contributes to the clinical management of patients. We performed the following four genetic tests in three stages for 52 consecutive deafness subjects in one facility. We used the Invader assay for 46 mutations in 13 genes and Sanger sequencing for the GJB2 gene or SLC26A4 gene in the first-stage test, the TaqMan genotyping assay in the second-stage test and targeted exon sequencing using massively parallel DNA sequencing in the third-stage test. Overall, we identified the genetic cause in 40% (21/52) of patients. The diagnostic rates of autosomal dominant, autosomal recessive and sporadic cases were 50%, 60% and 34%, respectively. When the sporadic cases with congenital and severe hearing loss were selected, the diagnostic rate rose to 48%. The combination approach using these genetic tests appears to be useful as a diagnostic tool for deafness patients. We recommended that genetic testing for the screening of common mutations in deafness genes using the Invader assay or TaqMan genotyping assay be performed as the initial evaluation. For the remaining undiagnosed cases, targeted exon sequencing using massively parallel DNA sequencing is clinically and economically beneficial.Jo...Continue Reading

References

Mar 21, 1998·Nature Genetics·X C LiE R Wilcox
Jun 9, 1998·Human Molecular Genetics·P Van HauweG Van Camp
Oct 24, 2002·Auris, Nasus, Larynx·Isamu YugeShin-ichi Usami
May 13, 2006·The Journal of Biological Chemistry·Keith E BryanPeter A Rubenstein
Aug 2, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Amit KochharRichard J H Smith
Mar 11, 2009·The Laryngoscope·A Eliot ShearerHossein Najmabadi
Aug 4, 2009·Genetic Testing and Molecular Biomarkers·Byung Yoon ChoiSeung-Ha Oh
Aug 14, 2009·Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery·M E Lutman, R R A Coles
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Nov 17, 2010·Proceedings of the National Academy of Sciences of the United States of America·A Eliot ShearerRichard J H Smith
Jun 22, 2012·Journal of Medical Genetics·Xiao Chang, Kai Wang
Jun 28, 2013·Journal of Medical Genetics·A Eliot ShearerRichard J H Smith
Sep 24, 2013·BMC Medical Genetics·Yoh-ichiro IwasaShin-ichi Usami
Jun 26, 2014·Genome Medicine·A Eliot ShearerRichard J H Smith
Sep 25, 2014·American Journal of Medical Genetics. Part a·Yongchuan ChaiTao Yang
Mar 20, 2015·The Annals of Otology, Rhinology, and Laryngology·Shin-Ya Nishio, Shin-Ichi Usami

❮ Previous
Next ❯

Citations

Jun 9, 2017·Expert Review of Molecular Diagnostics·Manou SommenGuy Van Camp
Dec 12, 2018·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Guillaume JouretAnne-Sophie Lebre
Jan 3, 2019·Genomics & Informatics·Nathanial T Carpena, Min Young Lee
Dec 13, 2019·European Journal of Human Genetics : EJHG·Lilian DownieDavid J Amor
May 3, 2019·BMC Medical Genetics·Justin A PaterTerry-Lynn Young
Jan 1, 2021·The Laryngoscope·Lilian DownieIlias Goranitis

❮ Previous
Next ❯

Datasets Mentioned

BETA
JGAS00000000032

Methods Mentioned

BETA
genotyping
PCR

Software Mentioned

PhyloP
GERP
MutationTaster
SIFT
ANNOVAR
PolyPhen2
LRT
Torrent Variant Caller
Torrent Mapping Alignment Program

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.