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

IllnessHearing loss, autosomal dominant; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Deafness, autosomal dominant, containing 8 core candidate genes and altogether 73 curated genes according to the clinical signs

ID
TP0100
Number of genes
70 Accredited laboratory test
Examined sequence length
27,1 kb (Core-/Core-canditate-Genes)
209,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
  • Oral mucosa (at least 2 swabs)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ACTG11128NM_001614.5AD
DIAPH13819NM_005219.5AD
GJB2681NM_004004.6AD, AR, digenisch
GJB6786NM_006783.5AD, AR, digenisch
KCNQ42088NM_004700.4AD, AR
MYH145988NM_024729.4AD
MYH95883NM_002473.6AD
MYO7A6648NM_000260.4AD
ABCC14596NM_004996.4AD
ADGRV118921NM_032119.4AR, digenisch
ATP2B23597NM_001683.5AD
ATP6V1B21536NM_001693.4AD
CCDC501449NM_178335.3AD
CEACAM161278NM_001039213.4AD, AR
CHD78994NM_017780.4AD
COCH1653NM_004086.3AD, AR
COL11A15421NM_001854.4AD
COL11A25211NM_080680.3AD, AR
COL2A14464NM_001844.5AD
CRYM945NM_001888.5AD
DIABLO429NM_001278302.1AD
DIAPH33582NM_001042517.2AD
DMXL29114NM_001174116.3AD, AR
DNMT14899NM_001130823.3AD
EDN3717NM_207034.3AD
EDNRB1329NM_000115.5AD
ELMOD31146NM_001135022.2AD, AR
ESPN2565NM_031475.3AD, AR
EYA11779NM_000503.6AD
EYA41920NM_004100.5AD
GATA31335NM_001002295.2AD
GJB3813NM_024009.3AD, AR
GREB1L6329NM_001142966.3AD
GRHL21878NM_024915.4AD, AR
GSDME1491NM_004403.3AD
HOMER21032NM_004839.4AD
HOXA21131NM_006735.4AD, AR
KDM3B5420NM_016604.4AD
KIT2931NM_000222.3AD, AR
KITLG822NM_000899.5AD
LMX1A1205NM_001174069.2AD
MITF1260NM_000248.4AD, AR
MN13963NM_002430.3AD
MORC23140NM_014941.3AD
MYO63858NM_004999.4AD
OPA12883NM_015560.3AD
OSBPL21113NM_001278649.3AD
P2RX21200NM_012226.5AD
PAX31440NM_181457.4AD, AR
PLS11905NM_002670.3AD
PMP22483NM_000304.4AD
POU4F31017NM_002700.3AD
RIPOR23207NM_014722.5AD, AR
SALL13975NM_002968.3AD
SALL43162NM_020436.5AD
SIX1855NM_005982.4AD
SLC12A23639NM_001046.3AD, AR
SLC17A81620NM_001145288.2AD
SNAI2807NM_003068.5AD, AR
SOX2954NM_003106.4AD
SPATC1L1230NM_001142854.2AR, AD
STXBP31779NM_007269.4AD, AR
TBC1D241680NM_001199107.2AD, AR
TECTA6468NM_005422.4AR, AD
THOC12075NM_005131.3AD
TMC12283NM_138691.3AD, AR
TMTC22634NM_152588.3AD
TNC6606NM_002160.4AD
TOP2B4917NM_001068.3AD
WFS12673NM_006005.3AD, AR

Informations about the disease

Clinical Comment

Hearing loss can present at any time from infancy to old age. More than half of the cases of pre-lingual hearing loss are genetic, and approximately 10% of these most frequent sensory deficits are inherited in an autosomal dominant manner (DFNA). In non-syndromic families with post-lingual deafness, dominant inheritance is twice as common. Nearly one-third of cases with hearing loss are associated with other symptoms, and approximately 600 such syndromes are known. Most forms of non-syndromic hearing loss are sensorineural with permanent hearing loss due to damage to inner ear structures; less commonly, conductive causes exist in the middle ear. Mutations in >50 genes have been identified in people with autosomal dominant non-syndromic hearing loss; mutations in some of these genes (GJB2, GJB6) may also cause autosomal recessive forms of the disease. Mutations in a few genes (e.g. KCNQ4, TECTA) occur more frequently. Mutations in many of the other genes have been found in only one or a few families. The overall diagnostic yield for hereditary hearing loss depends on the ethnic background of the patients with <50% in Europeans, Africans and North as well as South Americans. Studies in the Middle East showed >60% yield in some areas. A negative molecular genetic result excludes the clinical diagnosis by no means. Genetic testing, on the other hand, can identify subclinical or presymptomatic syndromes. This fact should be taken into account in education or counseling.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1434/

 

Synonyms
  • Alias: AD isolated neurosensory deafness type DFNA
  • Alias: AD isolated neurosensory hearing loss type DFNA
  • Alias: AD isolated sensorineural deafness type DFNA
  • Alias: AD isolated sensorineural hearing loss type DFNA
  • Alias: AD non-syndromic neurosensory deafness type DFNA
  • Alias: AD non-syndromic neurosensory hearing loss type DFNA
  • Alias: AD non-syndromic sensorineural deafness type DFNA
  • Alias: AD non-syndromic sensorineural hearing loss type DFNA
  • Alias: Deafness, hearing impairment
  • Alias: Schwerhörigkeit, nicht-syndromale sensorineurale, autosomal-dominante
  • Alias: Taubheit/Schwerhörigkeit, autosomal dominant
  • Allelic: Baraitser-Winter syndrome 2 (ACTG1)
  • Allelic: Bart-Pumphrey syndrome (GJB2)
  • Allelic: Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2Z (MORC2)
  • Allelic: Charcot-Marie-Tooth disease, type 1A (PMP22)
  • Allelic: Charcot-Marie-Tooth disease, type 1E (PMP22)
  • Allelic: Congenital disorder of glycosylation, type IIj (COG4)
  • Allelic: Deafness, AD 67 (OSBPL2)
  • Allelic: Deafness, AR (GJB3)
  • Allelic: Deafness, AR 110 (COCH)
  • Allelic: Deafness, AR 113 (CEACAM16)
  • Allelic: Deafness, AR 12, modifier of (ATP2B2)
  • Allelic: Deafness, AR 1A (GJB2)
  • Allelic: Deafness, AR 1B (GJB6)
  • Allelic: Deafness, AR 2 (MYO7A)
  • Allelic: Deafness, AR 21 (TECTA)
  • Allelic: Deafness, AR 36 (ESPN)
  • Allelic: Deafness, AR 37 (MYO6)
  • Allelic: Deafness, AR 53 (COL11A2)
  • Allelic: Deafness, AR 7 (TMC1)
  • Allelic: Deafness, AR 86 (TBC1D24)
  • Allelic: Deafness, AR 88 (ELMOD3)
  • Allelic: Deafness, DIG GJB2/GJB6 (GJB6)
  • Allelic: Dejerine-Sottas disease (PMP22)
  • Allelic: Ectodermal dysplasia 2, Clouston type (GJB6)
  • Allelic: Hystrix-like ichthyosis with deafness (GJB2)
  • Allelic: Keratitis-ichthyosis-deafness syndrome (GJB2)
  • Allelic: Keratoderma, palmoplantar, with deafness (GJB2)
  • Allelic: Macrothrombocytopenia, granulocyte incl. with/-out nephr./sensorineural hear. loss (MYH9)
  • Allelic: Neuropathy, inflammatory demyelinating (PMP22)
  • Allelic: Neuropathy, recurrent, with pressure palsies (PMP22)
  • Allelic: Peripheral neuropathy, myopathy, hoarseness + hearing loss (MYH14)
  • Allelic: Renal hypodysplasia/aplasia 3 (GREB1L)
  • Allelic: Roussy-Levy syndrome (PMP22)
  • Allelic: Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
  • Allelic: Usher syndrome, type 1B (MYO7A)
  • Allelic: Usher syndrome, type 2C (ADGRV1)
  • Allelic: Usher syndrome, type 2C, GPR98/PDZD7 digenic (ADGRV1)
  • Allelic: Very Early Onset Inflammatory Bowel Disease []panelapp (STXBP3)
  • Allelic: Vohwinkel syndrome (GJB2)
  • Allelic: Wolfram syndrome 1 (WFS1)
  • Allelic: Wolfram-like syndrome, AD (WFS1)
  • Allelic: Zimmermann-Laband syndrome 2 (ATP6V1B2)
  • Auditory neuropathy, AD, 1 (DIAPH3)
  • Branchiootic syndrome 1 (EYA1)
  • Branchiootic syndrome 3 (SIX1)
  • Branchiootorenal syndrome 2 (SIX5)
  • CEBALID syndrome (MN1)
  • CHARGE syndrome (CHD7)
  • COMMAD syndrome (MITF)
  • Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
  • Craniofacial-deafness-hand syndrome (PAX3)
  • DOORS syndrome (TBC1D24)
  • Deafness [panelapp] (SPATC1L)
  • Deafness [panelapp] (TMTC2)
  • Deafness, AD 1, with/-out thrombocytopenia (DIAPH1)
  • Deafness, AD 10 (EYA4)
  • Deafness, AD 104 (RIPOR2)
  • Deafness, AD 11 (MYO7A)
  • Deafness, AD 13 (COL11A2)
  • Deafness, AD 15 (POU4F3)
  • Deafness, AD 17 (MYH9)
  • Deafness, AD 20/26 (ACTG1)
  • Deafness, AD 22 (MYO6)
  • Deafness, AD 22, with hypertrophic cardiomyopathy (MYO6)
  • Deafness, AD 23 (SIX1)
  • Deafness, AD 25 (SLC17A8)
  • Deafness, AD 28 (GRHL2)
  • Deafness, AD 2A (KCNQ4)
  • Deafness, AD 2B (GJB3)
  • Deafness, AD 36 (TMC1)
  • Deafness, AD 39, with dentinogenesis (DSPP)
  • Deafness, AD 3A (GJB2)
  • Deafness, AD 3B (GJB6)
  • Deafness, AD 40 (CRYM)
  • Deafness, AD 41 (P2RX2)
  • Deafness, AD 44 (CCDC50)
  • Deafness, AD 4A (MYH14)
  • Deafness, AD 4B (CEACAM16)
  • Deafness, AD 56 (TNC)
  • Deafness, AD 6/14/38 (WFS1)
  • Deafness, AD 64 (DIABLO)
  • Deafness, AD 65 (TBC1D24)
  • Deafness, AD 68 (HOMER2)
  • Deafness, AD 69, unilateral/asymmetric (KITLG)
  • Deafness, AD 7 (LMX1A)
  • Deafness, AD 71 (DMXL2)
  • Deafness, AD 76 (PLS1)
  • Deafness, AD 77 (ABCC1)
  • Deafness, AD 8/12 (TECTA)
  • Deafness, AD 80 (GREB1L)
  • Deafness, AD 81 (ELMOD3)
  • Deafness, AD 9 (COCH)
  • Deafness, AD [panelapp] (TOP2B)
  • Deafness, AD, with peripheral neuropathy (GJB3)
  • Deafness, Ad 37 (COL11A1)
  • Deafness, DIG, GJB2/GJB3 (GJB3)
  • Deafness, congenital, with onychodystrophy, AD (ATP6V1B2)
  • Deafness, neurosensory, without vestibular involvement, AD (ESPN)
  • Developmental delay, impaired growth, dysmorphic facies + axonal neuropathy (MORC2)
  • Diets-Jongmans syndrome (KDM3B)
  • Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
  • Hypoparathyroidism, sensorineural deafness + renal dysplasia (GATA)3
  • Microtia with/-out hearing impairment (HOXA2)
  • Nonsyndromic genetic deafness MONDO:0019497 (THOC1)
  • Nonsyndromic hearing loss [panelapp] (TOP2B)
  • Optic atrophy plus syndrome (OPA1)
  • Piebaldism (KIT, SNAI2)
  • Saul-Wilson syndrome (COG4)
  • Sensorineural hearing loss [panelapp] (STXBP3)
  • Sensorineural hearing loss [panelapp] (TMTC2)
  • Tietz albinism-deafness syndrome (MITF)
  • Townes-Brocks branchiootorenal-like syndrome (SALL1)
  • Townes-Brocks syndrome 1 (SALL1)
  • Waardenburg syndrome, type 1 + 3 (PAX3)
  • Waardenburg syndrome, type 2A (MITF)
  • Waardenburg syndrome, type 2D (SNAI2)
  • Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
  • Waardenburg syndrome, type 4A (EDBRB)
  • Waardenburg syndrome, type 4B (EDN3)
  • Waardenburg syndrome, type 4C (SOX10)
Heredity, heredity patterns etc.
  • AD
  • AR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined