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ErkrankungHörverlust, autosomal rezessiv; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Taubheit, autosomal rezessiv, mit 6 bzw. zusammen genommen 111 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
TP0101
Anzahl Gene
109 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
50,0 kb (Core-/Basis-Gene)
307,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CDH2310065AR und/oder Dig
GJB2681AD und/oder AR und/oder Dig
GJB6786AD und/oder AR und/oder Dig
KCNQ12031AD und/oder AR und/oder Dig und/oder Sus
MYO63858AD und/oder AR und/oder Dig
MYO7A6648AD und/oder AR und/oder Dig
OTOF5994AR
SLC26A42343AR und/oder Dig
SLC26A52235AR
STRC5328AR
TECTA6468AD und/oder AR
TMIE471AR
TMPRSS31365AR
USH1C1659AR und/oder Dig
ABHD121197AR
ADCY13360AR
ADGRV118921AD und/oder AR
ALMS112504AR
ATP2B23597AD und/oder AR und/oder Dig
ATP6V1B11542AR
BCS1L1260AR
BDP17875AR
BSND963AR
CABP2663AR
CDC14A2176AR
CEACAM161278AD und/oder AR
CEP782216AR
CIB2564AR
CLDN14720AR
CLDN9655AR
CLIC51233AR
CLPP834AR
CLRN1699AR
CLRN2702AR
COCH1653AD und/oder AR
COL11A25211AD und/oder AR
DCDC21431AR
EDN3717AD und/oder AR
EDNRB1329AD und/oder AR und/oder Sus
ELMOD31146AD und/oder AR
EPS82469AR
EPS8L22220AR
ESPN2565AD und/oder AR
ESRP12099AR
ESRRB1527AR
FGF3720AR
FOXI11137AR und/oder Dig
GAB12324AR
GIPC3939AR
GJB3813AD und/oder Dig
GPSM22055AR
GRAP792AR
GRXCR1873AR
GRXCR2747AR
HAAO871AR
HGF2187AR
HOXA21131AD und/oder AR
HSD17B42211AR
ILDR11641AR
KARS11940AR
KCNJ101140AR und/oder Dig
KCNQ42088AD und/oder AR
KIT2931AD und/oder AR und/oder SMu und/oder Sus
LARS22712AR
LHFPL5660AR
LOXHD16636AR
LRTOMT876AR
MARVELD21677AR
MASP12187AR
MET4227AD und/oder AR und/oder Sus
MITF1260AD und/oder AR und/oder Sus
MPZL2653AR
MSRB3579AR
MYO15A10593AR
MYO3A4851AR
NARS21434AR
OPA12883AD und/oder AR und/oder Mult
OTOG8778AR
OTOGL7035AR
PAX31440AD und/oder AR und/oder SMu und/oder Gen Fusion
PCDH155868AR und/oder Dig
PDZD73102AR
PJVK1059AR
PNPT12352AD und/oder AR
PPIP5K24020AR
PTPRQ6446AD und/oder AR
RDX1752AR
RIPOR23207AR
ROR12935AR
S1PR21063AR
SERAC11965AR
SERPINB61131AR
SGPL11721AR
SLC4A112676AR
SNAI2807AD und/oder AR
SPATA52951AR
SPNS21662AR
SYNE41215AR
TBC1D241680AD und/oder AR
TMC12283AD und/oder AR
TMEM132E3234AR
TPRN2136AR
TRIOBP7098AR
TSPEAR2010AR
USH1G1386AR
USH2A15609AR
WBP2794AR
WFS12673AD und/oder AR
WHRN2724AR

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)
  • 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 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
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H90.5

Bioinformatik und klinische Interpretation

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