ErkrankungHörverlust, autosomal rezessiv; Differentialdiagnose
Zusammenfassung
Umfassendes differentialdiagnostisches panel für Taubheit, autosomal rezessiv, mit 6 bzw. zusammen genommen 111 kuratierten Genen gemäß klinischer Verdachtsdiagnose
307,9 kb (Erweitertes Panel)
- EDTA-Blut (3-5 ml)
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
CDH23 | 10065 | AR und/oder Dig | |
GJB2 | 681 | AD und/oder AR und/oder Dig | |
GJB6 | 786 | AD und/oder AR und/oder Dig | |
KCNQ1 | 2031 | AD und/oder AR und/oder Dig und/oder Sus | |
MYO6 | 3858 | AD und/oder AR und/oder Dig | |
MYO7A | 6648 | AD und/oder AR und/oder Dig | |
OTOF | 5994 | AR | |
SLC26A4 | 2343 | AR und/oder Dig | |
SLC26A5 | 2235 | AR | |
STRC | 5328 | AR | |
TECTA | 6468 | AD und/oder AR | |
TMIE | 471 | AR | |
TMPRSS3 | 1365 | AR | |
USH1C | 1659 | AR und/oder Dig | |
ABHD12 | 1197 | AR | |
ADCY1 | 3360 | AR | |
ADGRV1 | 18921 | AD und/oder AR | |
ALMS1 | 12504 | AR | |
ATP2B2 | 3597 | AD und/oder AR und/oder Dig | |
ATP6V1B1 | 1542 | AR | |
BCS1L | 1260 | AR | |
BDP1 | 7875 | AR | |
BSND | 963 | AR | |
CABP2 | 663 | AR | |
CDC14A | 2176 | AR | |
CEACAM16 | 1278 | AD und/oder AR | |
CEP78 | 2216 | AR | |
CIB2 | 564 | AR | |
CLDN14 | 720 | AR | |
CLDN9 | 655 | AR | |
CLIC5 | 1233 | AR | |
CLPP | 834 | AR | |
CLRN1 | 699 | AR | |
CLRN2 | 702 | AR | |
COCH | 1653 | AD und/oder AR | |
COL11A2 | 5211 | AD und/oder AR | |
DCDC2 | 1431 | AR | |
EDN3 | 717 | AD und/oder AR | |
EDNRB | 1329 | AD und/oder AR und/oder Sus | |
ELMOD3 | 1146 | AD und/oder AR | |
EPS8 | 2469 | AR | |
EPS8L2 | 2220 | AR | |
ESPN | 2565 | AD und/oder AR | |
ESRP1 | 2099 | AR | |
ESRRB | 1527 | AR | |
FGF3 | 720 | AR | |
FOXI1 | 1137 | AR und/oder Dig | |
GAB1 | 2324 | AR | |
GIPC3 | 939 | AR | |
GJB3 | 813 | AD und/oder Dig | |
GPSM2 | 2055 | AR | |
GRAP | 792 | AR | |
GRXCR1 | 873 | AR | |
GRXCR2 | 747 | AR | |
HAAO | 871 | AR | |
HGF | 2187 | AR | |
HOXA2 | 1131 | AD und/oder AR | |
HSD17B4 | 2211 | AR | |
ILDR1 | 1641 | AR | |
KARS1 | 1940 | AR | |
KCNJ10 | 1140 | AR und/oder Dig | |
KCNQ4 | 2088 | AD und/oder AR | |
KIT | 2931 | AD und/oder AR und/oder SMu und/oder Sus | |
LARS2 | 2712 | AR | |
LHFPL5 | 660 | AR | |
LOXHD1 | 6636 | AR | |
LRTOMT | 876 | AR | |
MARVELD2 | 1677 | AR | |
MASP1 | 2187 | AR | |
MET | 4227 | AD und/oder AR und/oder Sus | |
MITF | 1260 | AD und/oder AR und/oder Sus | |
MPZL2 | 653 | AR | |
MSRB3 | 579 | AR | |
MYO15A | 10593 | AR | |
MYO3A | 4851 | AR | |
NARS2 | 1434 | AR | |
OPA1 | 2883 | AD und/oder AR und/oder Mult | |
OTOG | 8778 | AR | |
OTOGL | 7035 | AR | |
PAX3 | 1440 | AD und/oder AR und/oder SMu und/oder Gen Fusion | |
PCDH15 | 5868 | AR und/oder Dig | |
PDZD7 | 3102 | AR | |
PJVK | 1059 | AR | |
PNPT1 | 2352 | AD und/oder AR | |
PPIP5K2 | 4020 | AR | |
PTPRQ | 6446 | AD und/oder AR | |
RDX | 1752 | AR | |
RIPOR2 | 3207 | AR | |
ROR1 | 2935 | AR | |
S1PR2 | 1063 | AR | |
SERAC1 | 1965 | AR | |
SERPINB6 | 1131 | AR | |
SGPL1 | 1721 | AR | |
SLC4A11 | 2676 | AR | |
SNAI2 | 807 | AD und/oder AR | |
SPATA5 | 2951 | AR | |
SPNS2 | 1662 | AR | |
SYNE4 | 1215 | AR | |
TBC1D24 | 1680 | AD und/oder AR | |
TMC1 | 2283 | AD und/oder AR | |
TMEM132E | 3234 | AR | |
TPRN | 2136 | AR | |
TRIOBP | 7098 | AR | |
TSPEAR | 2010 | AR | |
USH1G | 1386 | AR | |
USH2A | 15609 | AR | |
WBP2 | 794 | AR | |
WFS1 | 2673 | AD und/oder AR | |
WHRN | 2724 | AR |
Infos zur Erkrankung
Mehr als 50% des prä-lingualen Hörverlusts ist genetisch bedingt, ca. 90% dieser häufigsten sensorischen Defizite werden autosomal rezessiv vererbt. Einige Formen der genetisch bedingten Taubheit können an den damit verbundenen Syndrom-Merkmalen differenziert werden, aber in den meisten Fällen ist der Hörverlust der einzige Befund und wird als nicht-syndromische Taubheit bezeichnet. Bis heute wurden mehrere Tausend Mutationen in >130 Genen bei Patienten mit autosomal rezessivem nicht-syndromischem Hörverlust identifiziert. Die Mutationen in den GJB2 und GJB6 Genen sind in vielen Populationen häufige Ursachen für Hörverlust. Besonders bemerkenswert sind die extreme Lokus- und Allel-Heterogenität sowie die unterschiedlichen Spektren der Gene und Mutationen in verschiedenen Populationen. Genetisch bedingte Hörverluste treten in jedem Lebensalter auf, wenngleich monogen-bedingte Formen zumeist bereits prä-lingual symptomatisch sind. Die diagnostische Ausbeute beträgt je nach untersuchter Population ca. 40%. Ein unauffälliger genetischer Befund bedeutet daher keinen Ausschluss der klinischen Verdachtsdiagnose.
(Basisdiagnostik-Gene: ###; zusätzliche Gene: ###)
Referenz: https://www.ncbi.nlm.nih.gov/books/NBK1434/
- 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)
- 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)
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AD und/oder AR und/oder Dig und/oder Sus
- AD und/oder AR und/oder Mult
- AD und/oder AR und/oder SMu und/oder Gen Fusion
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder AR und/oder Sus
- AD und/oder Dig
- AR
- AR und/oder Dig
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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