Strategy for the Customized Mass Screening of Genetic Sensorineural Hearing Loss in Koreans
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Hearing loss is one of the most common sensorineural disorder. More than half of congenital bilateral profound deafness cases have been estimated to be attributed to genetic cause. Identification of genetic cause can provide valuable information. We developed new diagnostic strategy combining phenotype-driven candidate gene approach and targeted exome sequencing to find out the causative mutation of hearing loss. The causative mutation detection rates of this strategy were 78.1% and 54.8% in Korean multiplex families and sporadic severe to profound hearing loss families, respectively. The most frequent causative genes of Korean multiplex families were SLC26A4 and POU3F4. The other causative genes were MRNR1, WFS1, COCH, TECTA, MYO6, COL11A2, EYA4, GJB3, OTOF, STRC, MYO3A, and GJB2. The most frequent causative gene of Korean sporadic severe to profound hearing loss families was SLC26A4 followed by GJB2, CHD7, and CDH23. Based upon the results, the value of this strategy as a diagnostic tool seems to be promising. Although whole genome and exome sequencing have advanced as the development of next-generation sequencing, this new strategy could be a good screening and diagnostic tool to find the causative mutations.
Abstract
Hearing loss is one of the most common sensorineural disorder. More than half of congenital bilateral profound deafness cases have been estimated to be attributed to genetic cause. Identification of genetic cause can provide valuable information. We developed new diagnostic strategy combining phenotype-driven candidate gene approach and targeted exome sequencing to find out the causative mutation of hearing loss. The causative mutation detection rates of this strategy were 78.1% and 54.8% in Korean multiplex families and sporadic severe to profound hearing loss families, respectively. The most frequent causative genes of Korean multiplex families were SLC26A4 and POU3F4. The other causative genes were MRNR1, WFS1, COCH, TECTA, MYO6, COL11A2, EYA4, GJB3, OTOF, STRC, MYO3A, and GJB2. The most frequent causative gene of Korean sporadic severe to profound hearing loss families was SLC26A4 followed by GJB2, CHD7, and CDH23. Based upon the results, the value of this strategy as a diagnostic tool seems to be promising. Although whole genome and exome sequencing have advanced as the development of next-generation sequencing, this new strategy could be a good screening and diagnostic tool to find the causative mutations.
참고문헌 (16)
- Hilgert N., "Forty-six genes causing nonsyndromic hearing impairment : which ones should be analyzed in DNA diagnostics?", Mutat Res, 681, pp.189~196 (2009)
- Scott DA., "An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds", Am J Hum Genet, 59, pp.385~391 (1996)
- Yuan Y., "Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China", J Transl Med, 7, pp.79~ (2009)
- Lin X., "Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities", Hear Res, 288, pp.67~76 (2012)
- Wu CC., "Predominance of genetic diagnosis and imaging results as predictors in determining the speech perception performance outcome after cochlear implantation in children", Arch Pediatr Adolesc Med, 162, pp.269~276 (2008)
- Black J., "Prognostic indicators in paediatric cochlear implant surgery : a systematic literature review", Cochlear Implants Int, 12, pp.67~93 (2011)
- Kabatova Z., "Cochlear implantation in malformed inner ear", Bratisl Lek Listy, 110, pp.609~613 (2009)
- Dror AA., "Hearing impairment : a panoply of genes and functions", Neuron, 68, pp.293~308 (2010)
- Pierce SB., "Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome", Am J Hum Genet, 87, pp.282~288 (2010)
- Rehman AU., "Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79", Am J Hum Genet, 86, pp.378~388 (2010)
- Shearer AE., "Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing", Proc Natl Acad Sci U S A, 107, pp.21104~21109 (2010)
- Walsh T., "Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82", Am J Hum Genet, 87, pp.90~94 (2010)
- Zheng J., "Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss(DFNA4)", Proc Natl Acad Sci U S A, 108, pp.4218~4223 (2011)
- Baek JI., "Targeted massive parallel sequencing : the effective detection of novel causative mutations associated with hearing loss in small families", Orphanet J Rare Dis, 7, pp.60~ (2012)
- Brownstein Z., "Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families", Genome Biol, 12, pp.R89~ (2011)
- Choi BY., "Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss", PLoS One, 8, pp.e68692~ (2013)