IllnessHearing loss with (ear) malformations, differential diagnosis

NGS +

[Sanger]

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)