Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment

Laryngoscope

Volumn 119, Issue 12, 2009, Pages 2411-2416

  Wu, Chen Chi ^a,b   Lu, Ying Chang ^a   Chen, Pei Jer ^b   Liu, Alyssa Yan Zhen ^b   Hwu, Wuh Liang ^a,c   Hsu, Chuan Jen ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^c Biostatistics   (Taiwan)

Author keywords

Genetic test; GJB2; Mitochondrial 12S rRNA; SLC26A4; SNaPshot technique

Indexed keywords

MITOCHONDRIAL RNA; RIBOSOME RNA; CARRIER PROTEIN; CONNEXIN 26; GAP JUNCTION PROTEIN; MESSENGER RNA; SLC26A4 PROTEIN, HUMAN;

ALLELE; ARTICLE; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RNA SEQUENCE; SENSITIVITY ANALYSIS; SNAPSHOT MULTIPLEX ASSAY; COMPARATIVE STUDY; COST BENEFIT ANALYSIS; DIFFERENTIAL DIAGNOSIS; ECONOMICS; FOLLOW UP; GENETICS; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREVALENCE; PROSPECTIVE STUDY; REPRODUCIBILITY; TAIWAN; TRANSPORT AT THE CELLULAR LEVEL;

BIOLOGICAL TRANSPORT; CONNEXINS; COST-BENEFIT ANALYSIS; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FOLLOW-UP STUDIES; GENETIC TESTING; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE TRANSPORT PROTEINS; MUTATION; POLYMERASE CHAIN REACTION; PREVALENCE; PROSPECTIVE STUDIES; REPRODUCIBILITY OF RESULTS; RNA, MESSENGER; TAIWAN;

EID: 73949091535     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1002/lary.20621     Document Type: Article

References (22)

1. Nadol JB Jr. Hearing loss. N Engl J Med 1993;329:1092-1102.
2. Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE. Genetic epidemiological studies of early-onset deafness in the U. S. school-age population. Am J Med Genet 1993;46:486-491.
3. Smith RJ, Bale JF Jr, White KR. Sensorineural hearing loss in children. Lancet 2005;365:879-890.
4. Hilgert N, Smith RJ, Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009;681:189-196.
5. Gardner P, Oitmaa E, Messner A, Hoefsloot L, Metspalu A, Schrijver I. Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. Pediatrics 2006;118:985-994.
6. Siemering K, Manji SS, Hutchison WM, Du Sart D, Phelan D, Dahl HH. Detection of mutations in genes associated with hearing loss using a microarray-based approach. J Mol Diagn 2006;8:483-489; quiz 528.
7. Abe S, Yamaguchi T, Usami S. Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay. Genet Test 2007;11:333-340.
8. Wu CC, Chen PJ, Chiu YH, Lu YC, Wu MC, Hsu CJ. Prospective mutation screening of three common deafness genes in a large Taiwanese cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results between families from hospitals and those from rehabilitation facilities. Audiol Neurootol 2007;13:172-181.
9. Hwa HL, Ko TM, Hsu CJ, et al. Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness. Genet Med 2003;5:161-165.
10. Pollak A, Skorka A, Mueller-Malesinska M, et al. M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. Am J Med Genet A 2007;143A:2534-2543.
11. Bacino C, Prezant TR, Bu X, Fournier P, Fischel-Ghodsian N. Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics 1995;5:165-172.
12. Kobayashi K, Oguchi T, Asamura K, et al. Genetic features, clinical phenotypes, and prevalence of sensorineural hearing loss associated with the 961delT mitochondrial mutation. Auris Nasus Larynx 2005;32:119-124.
13. Wu CC, Chen PJ, Hsu CJ. Specificity of SLC26A4 mutations in the pathogenesis of inner ear malformations. Audiol Neurootol 2005;10:234-242.
14. Wu CC, Chiu YH, Chen PJ, Hsu CJ. Prevalence and clinical features of the mitochondrial m.1555A>G mutation in Taiwanese patients with idiopathic sensorineural hearing loss and association of haplogroup F with low penetrance in three families. Ear Hear 2007;28:332-342.
15. Yang JJ, Huang SH, Chou KH, Liao PJ, Su CC, Li SY. Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. Audiol Neurootol 2007;12:198-208.
16. Su CC, Yang JJ, Shieh JC, Su MC, Li SY. Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. Audiol Neurootol 2007;12:20-26.
17. Smith WM, Van Orsouw NJ, Fox EA, Kolodner RD, Vijg J, Eng C. Accurate, high-throughput "snapshot" detection of hMLH1 mutations by two-dimensional DNA electrophoresis. Genet Test 1998;2:43-53.
18. Yamaguchi N, Kobayashi K, Yasuda T, et al. Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. Hum Mutat 2002;19:122-130.
19. Cassandrini D, Calevo MG, Tessa A, et al. A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy. Biochem Biophys Res Commun 2006;342:387-393.
20. Bardien S, Human H, Harris T, et al. A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness. BMC Med Genet 2009;10:2.
21. Cremers FP, Kimberling WJ, Kulm M, et al. Development of a genotyping microarray for Usher syndrome. J Med Genet 2007;44:153-160.
22. Wu CC, Lu YC, Chen PJ, et al. Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral non-syndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. Audiol Neurootol 2009;in press.