Genetics: Advances in genetic testing for deafness

Current Opinion in Pediatrics

Volumn 24, Issue 6, 2012, Pages 679-686

  Shearer, A Eliot ^a   Smith, Richard J H ^a  

^a UNIVERSITY OF IOWA   (United States)

Author keywords

deafness; genetics; genomics; hearing loss; massively parallel sequencing

Indexed keywords

GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC SCREENING; HEARING IMPAIRMENT; HUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SINUS NODE; TECHNOLOGY;

DEAFNESS; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS;

EID: 84870059918     PISSN: 10408703     EISSN: 1531698X     Source Type: Journal    
DOI: 10.1097/MOP.0b013e3283588f5e     Document Type: Review

References (19)

1. Morton CC, Nance WE. Newborn hearing screening: a silent revolution. N Engl J Med 2006; 354:2151-2164.
2. Shearer AE, Hildebrand MS, Sloan CM, et al. Deafness in the genomics era. Hear Res 2011; 282:1-9.
3. Baig SM, Koschak A, Lieb A, et al. Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci 2011; 14:77-84.
4. Klein CJ, Botuyan M, Wu Y, et al. Mutations in DNMT1 cause hereditary & sensory neuropathy with dementia and hearing loss. Nat Genet 2011; 43:595-600.
5. Pierce SB, Chisholm KM, Lynch ED, et al. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A 2011; 108:6543-6548.
6. Zheng J, Miller KK, Yang T, et al. Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in auto somal dominant hearing loss (DFNA4). Proc Natl Acad Sci U S A 2011; 108:4218-4223.
7. Cheng J, Zhu Y, He S, et al. Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. Am J Hum Genet 2011; 89:56-66.
8. Charizopoulou N, Lelli A, Schraders M, et al. Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. Nat Commun 2011; 2:201.
9. Borck G, Ur Rehman A, Lee K, et al. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet 2011; 88:127-137.
10. Ahmed ZM, Yousaf R, Lee BC, et al. Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deaf ness DFNB74. Am J Hum Genet 2011; 88:19-29.
11. Schraders M, Haas SA, Weegerink NJD, et al. Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 2011; 88:628-634.
12. Pierce SB, Walsh T, Chisholm KM, et al. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome. Am J Hum Genet 2010; 87:282-288.
13. Hilgert N, Smith RJH, Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009; 681:189-196.
14. Kothiyal P, Cox S, Ebert J, et al. High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. BMC Biotechnol 2010; 10:10.
15. Rodriguez-Paris J, Pique L, Colen T, et al. Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice. PLoS One 2010; 5:e11804.
16. Shearer AE, DeLuca AP, Hildebrand MS, et al. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A 2010; 107:21104-21109.
17. Brownstein Z, Friedman LM, Shahin H, et al. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol 2011; 12:R89.
18. Tang W, Qian D, Ahmad S, et al. A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach. Genet Test Mol Biomark 2012; 16:536-542.
19. De Keulenaer S, Hellemans J, Lefever S, et al. Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform. BMC Med Genomics 2012; 5:17.