IllnessHearing loss, autosomal recessive; differential diagnosis

NGS +

[Sanger]

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/

• 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)