©istock.com/Andrea Obzerova
Unsere KompetenzInterdisziplinäre Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patientinnen und Patienten.

Klinische FragestellungHörverlust, autosomal rezessiv; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Taubheit, autosomal rezessiv, mit 13 Leitlinien-kuratierten bzw. zusammen genommen 139 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
TP0101
Anzahl Gene
111 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
50,4 kb (Core-/Core-canditate-Gene)
308,8 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
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
AP1S1477NM_001283.5AR
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

Infos zur Erkrankung

Klinischer Kommentar

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/

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

Kein Text hinterlegt