IllnessHearing loss with (ear) malformations, differential diagnosis
Summary
Comprehensive, targeted differential diagnostic panel for 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
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
- n.k.
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
No text defined