IllnessHearing loss, sensorineural, non-syndromal; differential diagnosis
Summary
Targeted differential diagnostic panel for sensorineural hearing loss comprising 8 curated genes according to the clinical signs
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
[Sanger]
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
GJB2 | 681 | NM_004004.6 | AD, AR, digenisch | |
GJB6 | 786 | NM_006783.5 | AD, AR, digenisch | |
MYO15A | 10593 | NM_016239.4 | AR | |
MYO7A | 6648 | NM_000260.4 | AD, AR | |
SLC26A4 | 2343 | NM_000441.2 | AR | |
STRC | 5328 | NM_153700.2 | AR | |
TMC1 | 2283 | NM_138691.3 | AD, AR | |
TMIE | 471 | NM_147196.3 | AR | |
TMPRSS3 | 1365 | NM_024022.4 | AR |
Informations about the disease
Hearing disorders are the most common form of sensory deficits. More than half of congenital deafness is genetic and is usually more perceptive/neurosensory than conductive (no amplification between the outer and inner ear). In the vast majority of cases deafness is non-syndromic. In 85% of genetic cases deafness is transmitted autosomal recessively (DFNB types). Autosomal dominant inheritance accounts for 10-15% (DFNA type), 1% of cases are inherited as an X-linked trait (DFN type). Combined genetic approaches lead to diagnosis rates of almost >50% in Caucasian cohorts, for example. More than 400 genetic syndromes include hearing loss. The composition of genetic hearing disorders currently ranges from DFNA1-DFNA59 and DFNB1A-DFNB115. However, an inconspicuous genetic finding does not preclude clinical diagnosis.
Reference: https://www.ncbi.nlm.nih.gov/books/NBK1434/
https://dgpp.de/cms/pages/de/profibereich/konsensus.php#hoestdeafness
- Alias: Deafness, hearing impairment
- Alias: Schwerhörigkeit, Taubheit
- Allelic: Ectodermal dysplasia 2, Clouston type (GJB6)
- Bart-Pumphrey syndrome (GJB2)
- Deafness, AD 36 (TMC1)
- Deafness, AD 3A (GJB2)
- Deafness, AD 3B (GJB6)
- Deafness, AR 1A (GJB2)
- Deafness, AR 1B (GJB6)
- Deafness, AR 3 (MYO15A)
- Deafness, AR 4, with enlarged vestibular aqueduct (SLC26A4)
- Deafness, AR 6 (TMIE)
- Deafness, AR 7 (TMC1)
- Deafness, AR 8/10 (TMPRSS3)
- Deafness, digenic GJB2/GJB6 (GJB6)
- Hystrix-like ichthyosis with deafness (GJB2)
- Keratitis-ichthyosis-deafness syndrome (GJB2)
- Keratoderma, palmoplantar, with deafness (GJB2)
- Pendred syndrome (SLC26A4)
- Vohwinkel syndrome (GJB2)
- AD
- AR
- digenisch
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
No text defined