©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessHearing loss, autosomal recessive; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Deafness, autosomal recessive comprising 13 guideline-curated genes and altogether 139 curated genes according to the clinical signs

ID
TP0101
Number of genes
110 Accredited laboratory test
Examined sequence length
50,4 kb (Core-/Core-canditate-Genes)
308,3 kb (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-GReferenz-Seq.Heredity
CDH2310065NM_022124.6AR, digenisch
GJB2681NM_004004.6AR, digenisch, AD
GJB6786NM_006783.5AD, AR, digenisch
KCNE1390NM_000219.6AR
KCNQ12031NM_000218.3AR
MYO63858NM_004999.4AR, AD
MYO7A6648NM_000260.4AR, AD
OTOF5994NM_194248.3AR
SLC26A42343NM_000441.2AR
SLC26A52235NM_198999.3AR
STRC5328NM_153700.2AR
TECTA6468NM_005422.4AR, AD
TMIE471NM_147196.3AR
TMPRSS31365NM_024022.4AR
USH1C1659NM_005709.4AR
ABHD121197NM_001042472.3AR
ADCY13360NM_021116.4AR
ADGRV118921NM_032119.4AR, digenisch
AFG2A2951NM_145207.3AR
ALMS112504NM_015120.4AR
ATP2B23597NM_001683.5AD, AR
ATP6V1B11542NM_001692.4AR
BCS1L1260NM_004328.5AR
BDP17875NM_018429.3AR
BSND963NM_057176.3AR
CABP2663NM_016366.3AR
CDC14A2176NM_033312.3AR
CEACAM161278NM_001039213.4AR, AD
CEP782216NM_001098802.3AR
CIB2564NM_006383.4AR
CLDN14720NM_144492.3AR
CLDN9655NM_020982.4AR
CLIC51233NM_001114086.2AR
CLPP834NM_006012.4AR
CLRN1699NM_174878.3AR
CLRN2702NM_001079827.2AR
COCH1653NM_004086.3AR, AD
COL11A25211NM_080680.3AR, AD
DCDC21431NM_016356.5AR
EDN3717NM_207034.3AR, AD
EDNRB1329NM_000115.5AR, AD
ELMOD31146NM_001135022.2AR, AD
EPS82469NM_004447.6AR
EPS8L22220NM_022772.4AR
ESPN2565NM_031475.3AR, AD
ESRP12099NM_001034915.3AR
ESRRB1527NM_004452.4AR
FGF3720NM_005247.4AR
FOXI11137NM_012188.5AR
GAB12324NM_002039.4AR
GIPC3939NM_133261.3AR
GJB3813NM_024009.3AR, digenisch, AD
GPSM22055NM_013296.5AR
GRAP792NM_006613.4AR
GRXCR1873NM_001080476.3AR
GRXCR2747NM_001080516.2AR
HAAO871NM_012205.3AR
HGF2187NM_000601.6AR
HOXA21131NM_006735.4AD, AR
HSD17B42211NM_000414.4AR
ILDR11641NM_001199799.2AR
KARS11940NM_001130089.2AR
KCNJ101140NM_002241.5AR
KCNQ42088NM_004700.4AR, AD
KIT2931NM_000222.3AD, AR
LARS22712NM_015340.4AR
LHFPL5660NM_182548.4AR
LOXHD16636NM_144612.7AR
LRTOMT876NM_001145308.5AR
MARVELD21677NM_001038603.3AR
MASP12187NM_139125.4AR
MET4227NM_001127500.3AR
MITF1260NM_000248.4AD, AR
MPZL2653NM_005797.4AR
MSRB3579NM_198080.4AR
MYO15A10593NM_016239.4AR
MYO3A4851NM_017433.5AR
NARS21434NM_024678.6AR
OPA12883NM_015560.3AD
OTOG8778NM_001277269.2AR
OTOGL7035NM_173591.7AR
PAX31440NM_181457.4AR, AD
PCDH155868NM_033056.4AR, digenisch
PDZD73102NM_001195263.2AR, digenisch
PJVK1059NM_001042702.5AR
PNPT12352NM_033109.5AR
PPIP5K24020NM_001276277.3AR
PTPRQ6446NM_001145026.2AR, AD
RDX1752NM_002906.4AR
RIPOR23207NM_014722.5AR, AD
ROR12935NM_001083592.2AR
S1PR21063NM_004230.4AR
SERAC11965NM_032861.4AR
SERPINB61131NM_004568.6AR
SGPL11721NM_003901.4AR
SLC4A112676NM_032034.4AR
SNAI2807NM_003068.5AD, AR
SPNS21662NM_001124758.3AR
SYNE41215NM_001039876.3AR
TBC1D241680NM_001199107.2AR, AD
TMC12283NM_138691.3AR, AD
TMEM132E3234NM_001304438.2AR
TPRN2136NM_001128228.3AR
TRIOBP7098NM_001039141.3AR
TSPEAR2010NM_144991.3AR
USH1G1386NM_173477.5AR
USH2A15609NM_206933.4AR
WBP2794NM_012478.4AR
WFS12673NM_006005.3AR, AD
WHRN2724NM_015404.4AR

Informations about the disease

Clinical Comment

More than 50% of pre-lingual hearing loss is genetic, about 90% of this most common sensory deficit is inherited autosomal recessively. Some forms of genetic deafness can be recognised by the syndromic features associated with it, but in most cases hearing loss is the only finding and is referred to as non-syndromic deafness. To date, several thousand mutations in >130 genes have been identified in patients with autosomal recessive non-syndromic hearing loss. Mutations in the GJB2 and GJB6 genes are common causes of hearing loss in many populations. Particularly noteworthy are the extreme locus and allele heterogeneities and the different spectra of genes and mutations in the different populations. Genetically caused hearing loss occurs at any age, although monogenic forms are usually symptomatic prelingually. The diagnostic yield is about 40% depending on the population studied. An inconspicuous genetic finding therefore does not mean that the suspected clinical diagnosis is excluded.

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

 

Synonyms
  • Alias: AR isolated neurosensory deafness type DFNB
  • Alias: AR isolated sensorineural deafness type DFNB
  • Alias: AR non-syndromic neurosensory deafness type DFNB
  • Alias: AR non-syndromic sensorineural deafness type DFNB
  • Alias: Deafness, hearing impairment
  • Alias: Schwerhörigkeit
  • Alias: Taubheit, autosomal rezessiv
  • Allelic: Bart-Pumphrey syndrome (GJB2)
  • Allelic: Charcot-Marie-Tooth disease, DI C (YARS1)
  • Allelic: Combined oxidative phosphorylation deficiency 24 (NARS2)
  • Allelic: Deafness, AD 11 (MYO7A)
  • Allelic: Deafness, AD 3A (GJB2)
  • Allelic: Deafness, AD 3B (GJB6)
  • Allelic: Deafness, AD 78 (SLC12A2)
  • Allelic: Deafness, AD 8/12 (TECTA)
  • Allelic: Deafness, AD 81 (ELMOD3)
  • Allelic: Deafness, AR (GJB3)
  • Allelic: Deafness, AR 4, with enlarged vestibular aqueduct (SLC26A4)
  • Allelic: Deafness, AR 88 (ELMOD3)
  • Allelic: Delpire-McNeill syndrome (SLC12A2)
  • Allelic: Ectodermal dysplasia 2, Clouston type (GJB6)
  • Allelic: Epiphyseal dysplasia, multiple, 2 (COL9A2)
  • Allelic: Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
  • Allelic: Epiphyseal dysplasia, multiple, 6 (COL9A1)
  • Allelic: Fazio-Londe disease (SLC52A3)
  • Allelic: Hirschsprung disease, susceptibility to, 4 (EDN3)
  • Allelic: Hystrix-like ichthyosis with deafness (GJB2)
  • Allelic: Intervertebral disc disease, susceptibility to (COL9A3)
  • Allelic: Keratitis-ichthyosis-deafness syndrome (GJB2)
  • Allelic: Keratoderma, palmoplantar, with deafness (GJB2)
  • Allelic: Long QT syndrome 5 (KCNE1)
  • Allelic: Nephronophthisis 19 (DCDC2)
  • Allelic: Osteofibrous dysplasia, susceptibility to (MET)
  • Allelic: Sclerosing cholangitis, neonatal (DCDC2)
  • Allelic: Very Early Onset Inflammatory Bowel Disease (STXBP3)
  • Allelic: Vohwinkel syndrome (GJB2)
  • 3-methylglutaconic aciduria, deafness, encephalopathy, Leigh-like syndrome (SERAC1)
  • Alias: AR non-syndromic neurosensory hearing loss type DFNB
  • Alias: AR non-syndromic sensorineural hearing loss type DFNB
  • Auditory neuropathy + optic atrophy (FDXR)
  • Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
  • Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
  • Cochlea malformations [panelapp] (FOXF2)
  • Coenzyme Q10 deficiency, primary, 2 (PDSS1)
  • Cone-rod dystrophy + hearing loss 2 (CEP250)
  • Cone-rod dystrophy and hearing loss (CEP78)
  • Deafness + myopia (SLITRK6)
  • Deafness [panelapp] (SPATC1L)
  • Deafness, AR 100 (PPIP5K2)
  • Deafness, AR 103 (CLIC5)
  • Deafness, AR 104 (RIPOR2)
  • Deafness, AR 106 (EPS8L2)
  • Deafness, AR 107 (WBP2)
  • Deafness, AR 108 (ROR1)
  • Deafness, AR 109 (ESRP1)
  • Deafness, AR 110 (COCH)
  • Deafness, AR 111 (MPZL2)
  • Deafness, AR 112 (BDP1)
  • Deafness, AR 113 (CEACAM16)
  • Deafness, AR 114 (GRAP)
  • Deafness, AR 115 (SPNS2)
  • Deafness, AR 116 (CLDN9)
  • Deafness, AR 117 (CLRN2)
  • Deafness, AR 119 (SPATA5L1)
  • Deafness, AR 12, modifier of (ATP2B2)
  • Deafness, AR 16 (STRC)
  • Deafness, AR 1A (GJB2)
  • Deafness, AR 1B (GJB6)
  • Deafness, AR 2 (MYO7A)
  • Deafness, AR 21 (TECTA)
  • Deafness, AR 22 (OTOA)
  • Deafness, AR 25 (GRXCR2)
  • Deafness, AR 26 (GAB1)
  • Deafness, AR 32, with/-out immotile sperm (CDC14A)
  • Deafness, AR 36 (ESPN)
  • Deafness, AR 37 (MYO6)
  • Deafness, AR 39 (HGF)
  • Deafness, AR 44 (ADCY1)
  • Deafness, AR 53 (COL11A2)
  • Deafness, AR 59 (PJVK)
  • Deafness, AR 66 (DCDC2)
  • Deafness, AR 68 (S1PR2)
  • Deafness, AR 7 (TMC1)
  • Deafness, AR 86 (TBC1D24)
  • Deafness, AR 91 (SERPINB6)
  • Deafness, AR 94 (NARS2)
  • Deafness, AR 97 (MET)
  • Deafness, AR 99 (TMEM132E)
  • Deafness, DIG GJB2/GJB6 (GJB2/GJB6)
  • Enlarged vestibular aqueduct (FOXI1)
  • Epilepsy, hearing loss + mental retardation syndrome (SPATA5)
  • Hypokalemic tubulopathy + deafness (KCNJ16)
  • Incomplete partition type I anomaly of the cochlea [panelapp] (FOXF2)
  • Infantile-onset multisystem neurologic, endocrine + pancreatic disease 2 (YARS1)
  • Jervell + Lange-Nielsen syndrome 2 (KCNE1)
  • Kilquist syndrome (SLC12A2)
  • Leukodystrophy, hypomyelinating, 23 + ataxia, deafness, liver dysfunction, dil. cardiomyop. (RNF220)
  • MEDNIK syndrome (AP1S1)
  • Muscular dystrophy, congenital hearing loss + ovarian insufficiency syndrome (GGPS1)
  • Nephrotic syndrome, type 14 (SGPL1)
  • Neurodevelopmental disorder with hearing loss + spasticity (SPATA5L1)
  • Neurodevelopmental disorder with hypotonia, neuropathy + deafness (SPTBN4)
  • Pendred syndrome (SLC26A4)
  • Perrault syndrome 2 (HARS2)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa + cataract (ABDH12)
  • Profound sensorineural hearing loss [panelapp] (FOXF2)
  • Sensorineural hearing loss (STXBP3)
  • Stickler syndrome [MONDO:0019354] (COL9A3)
  • Stickler syndrome, type IV (COL9A1)
  • Stickler syndrome, type V (COL9A2)
  • Usher syndrome, type 1B (MYO7A)
  • Usher syndrome, type 2C (ADGRV1)
  • Usher syndrome, type 2C, GPR98/PDZD7 digenic (ADGRV1)
  • Vertebral, cardiac, renal + limb defects syndrome 1 (HAAO)
  • Waardenburg syndrome, type 4B (EDN3)
  • Wolfram syndrome 2 (CISD2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined