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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessHearing loss with (ear) malformations, differential diagnosis

Summary

Short information

Comprehensive, targeted differential diagnostic panel for hearing loss comprising 8 curated genes according to the clinical signs

ID
HP0750
Number of genes
9 Accredited laboratory test
Examined sequence length
30,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
GJB2681AD, AR, digenisch
GJB6786AD, AR, digenisch
MYO15A10593AR
MYO7A6648AD, AR
SLC26A42343AR
STRC5328AR
TMC12283n.k.
TMIE471AR
TMPRSS31365AR

Informations about the disease

Clinical Comment

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

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • digenisch
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H90.3

Bioinformatics and clinical interpretation

No text defined