Table 3.
Mutation chips for hearing loss.
| Mutation chips | Genes/SNPs (mutations) | Genes analysed | Time to result |
|---|---|---|---|
| Hearing loss biochip (Murdoch Children's Institute, Australia). Siemering et al, 2006 |
4 genes/15 SNPs |
GJB2; SLC26A4; usherin gene USH2A; mitochondrial gene m12SrRNA
(selection based on high prevalence in Australia) |
< 2 days |
| Allele specific PCR-based universal array (ASPUA ), China. Li et al, 2008 |
4 genes /11 SNPs | Connexin genes (GJB2; GJB3); SLC26A4; mitochondrial gene m12SrRNA | 5 hours |
| SoundGene screening panel (Pediatrix Medical Group, 2010, USA |
4 genes/15 SNPs | Connexin genes (GJB2; GJB3); SLC26A4; mitochondrial gene m12SrRNA | 3 days |
| Invader array, Japan. Abe et al, 2007 |
9 genes/41 SNPs |
GJB2; SLC26A4; TECTA; EYA1; KCNQ4; COCH; CRYM; mitochondrial genes (m12SrRNA and mtRNA-LeuUUR) |
Not reported |
| Hereditary hearing loss arrayed primer extension microarray (APEX array) (Stanford University Medical Center, USA) Gardener et al, 2006; Rodriguez-Paris et al, 2010 |
8 genes/198 SNPs (of which ˜90 are GJB2 mutations) | Connexin genes (GJB2; GJB6; GJB3; GJA1); SLC26A4 and SLC26A5; mitochondrial genes (m12SrRNA and mtRNA-SerUCN) | ˜6 hours |
| Array CGC (CGC Genetics, 2010: USA, Portugal, Spain) |
31 genes/312 SNPs (of which 176 syndromic; 136 nonsyndromic) | Connexin genes (GJB2; GJB6; GJB3; GJA1); SLC26A4 and SLC26A5; Usher syndrome genes; Branchio-oto-renal syndrome genes; Jervell and Lange–Nielsen syndrome genes; Waardenburg syndrome genes (no mitochondrial genes included) |
3–4 weeks |
| Otochip: oligonucleotide hybridization Affymetrix Genechip Cutomseq sequencing microarray (Harvard Medical School/Cincinnatti Children's Hospital, USA) Kothiyal et al, 2010: data relating to 13 of the 19 genes |
19 genes (unspecified number of SNPs) | Non-syndromic autosomal recessive hearing loss: CDH23; WHRN; GJB6; MYO6; MYO7A; OTOF; PCDH15; SLC26A4; TMC1; TMIE; TMPRSS3; USH1C
Non-syndromic autosomal dominant hearing loss: GJB6; MYO6; MYO7A; TMC1 Mitochondrial genes: mtRNA-SerUCN and 6 mutations in m12SrRNA; Usher syndrome genes (Not intended for the detection of mutations in GJB2) |
8 weeks |