IllnessHearing loss, autosomal dominant; differential diagnosis

NGS +

[Sanger]

Hearing loss can present at any time from infancy to old age. More than half of the cases of pre-lingual hearing loss are genetic, and approximately 10% of these most frequent sensory deficits are inherited in an autosomal dominant manner (DFNA). In non-syndromic families with post-lingual deafness, dominant inheritance is twice as common. Nearly one-third of cases with hearing loss are associated with other symptoms, and approximately 600 such syndromes are known. Most forms of non-syndromic hearing loss are sensorineural with permanent hearing loss due to damage to inner ear structures; less commonly, conductive causes exist in the middle ear. Mutations in >50 genes have been identified in people with autosomal dominant non-syndromic hearing loss; mutations in some of these genes (GJB2, GJB6) may also cause autosomal recessive forms of the disease. Mutations in a few genes (e.g. KCNQ4, TECTA) occur more frequently. Mutations in many of the other genes have been found in only one or a few families. The overall diagnostic yield for hereditary hearing loss depends on the ethnic background of the patients with <50% in Europeans, Africans and North as well as South Americans. Studies in the Middle East showed >60% yield in some areas. A negative molecular genetic result excludes the clinical diagnosis by no means. Genetic testing, on the other hand, can identify subclinical or presymptomatic syndromes. This fact should be taken into account in education or counseling.

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

• Alias: AD isolated neurosensory deafness type DFNA
• Alias: AD isolated neurosensory hearing loss type DFNA
• Alias: AD isolated sensorineural deafness type DFNA
• Alias: AD isolated sensorineural hearing loss type DFNA
• Alias: AD non-syndromic neurosensory deafness type DFNA
• Alias: AD non-syndromic neurosensory hearing loss type DFNA
• Alias: AD non-syndromic sensorineural deafness type DFNA
• Alias: AD non-syndromic sensorineural hearing loss type DFNA
• Alias: Deafness, hearing impairment
• Alias: Schwerhörigkeit, nicht-syndromale sensorineurale, autosomal-dominante
• Alias: Taubheit/Schwerhörigkeit, autosomal dominant
• Allelic: Baraitser-Winter syndrome 2 (ACTG1)
• Allelic: Bart-Pumphrey syndrome (GJB2)
• Allelic: Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2Z (MORC2)
• Allelic: Charcot-Marie-Tooth disease, type 1A (PMP22)
• Allelic: Charcot-Marie-Tooth disease, type 1E (PMP22)
• Allelic: Congenital disorder of glycosylation, type IIj (COG4)
• Allelic: Deafness, AD 67 (OSBPL2)
• Allelic: Deafness, AR (GJB3)
• Allelic: Deafness, AR 110 (COCH)
• Allelic: Deafness, AR 113 (CEACAM16)
• Allelic: Deafness, AR 12, modifier of (ATP2B2)
• Allelic: Deafness, AR 1A (GJB2)
• Allelic: Deafness, AR 1B (GJB6)
• Allelic: Deafness, AR 2 (MYO7A)
• Allelic: Deafness, AR 21 (TECTA)
• Allelic: Deafness, AR 36 (ESPN)
• Allelic: Deafness, AR 37 (MYO6)
• Allelic: Deafness, AR 53 (COL11A2)
• Allelic: Deafness, AR 7 (TMC1)
• Allelic: Deafness, AR 86 (TBC1D24)
• Allelic: Deafness, AR 88 (ELMOD3)
• Allelic: Deafness, DIG GJB2/GJB6 (GJB6)
• Allelic: Dejerine-Sottas disease (PMP22)
• Allelic: Ectodermal dysplasia 2, Clouston type (GJB6)
• Allelic: Hystrix-like ichthyosis with deafness (GJB2)
• Allelic: Keratitis-ichthyosis-deafness syndrome (GJB2)
• Allelic: Keratoderma, palmoplantar, with deafness (GJB2)
• Allelic: Macrothrombocytopenia, granulocyte incl. with/-out nephr./sensorineural hear. loss (MYH9)
• Allelic: Neuropathy, inflammatory demyelinating (PMP22)
• Allelic: Neuropathy, recurrent, with pressure palsies (PMP22)
• Allelic: Peripheral neuropathy, myopathy, hoarseness + hearing loss (MYH14)
• Allelic: Renal hypodysplasia/aplasia 3 (GREB1L)
• Allelic: Roussy-Levy syndrome (PMP22)
• Allelic: Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
• Allelic: Usher syndrome, type 1B (MYO7A)
• Allelic: Usher syndrome, type 2C (ADGRV1)
• Allelic: Usher syndrome, type 2C, GPR98/PDZD7 digenic (ADGRV1)
• Allelic: Very Early Onset Inflammatory Bowel Disease []panelapp (STXBP3)
• Allelic: Vohwinkel syndrome (GJB2)
• Allelic: Wolfram syndrome 1 (WFS1)
• Allelic: Wolfram-like syndrome, AD (WFS1)
• Allelic: Zimmermann-Laband syndrome 2 (ATP6V1B2)
• Auditory neuropathy, AD, 1 (DIAPH3)
• Branchiootic syndrome 1 (EYA1)
• Branchiootic syndrome 3 (SIX1)
• Branchiootorenal syndrome 2 (SIX5)
• CEBALID syndrome (MN1)
• CHARGE syndrome (CHD7)
• COMMAD syndrome (MITF)
• Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
• Craniofacial-deafness-hand syndrome (PAX3)
• DOORS syndrome (TBC1D24)
• Deafness [panelapp] (SPATC1L)
• Deafness [panelapp] (TMTC2)
• Deafness, AD 1, with/-out thrombocytopenia (DIAPH1)
• Deafness, AD 10 (EYA4)
• Deafness, AD 104 (RIPOR2)
• Deafness, AD 11 (MYO7A)
• Deafness, AD 13 (COL11A2)
• Deafness, AD 15 (POU4F3)
• Deafness, AD 17 (MYH9)
• Deafness, AD 20/26 (ACTG1)
• Deafness, AD 22 (MYO6)
• Deafness, AD 22, with hypertrophic cardiomyopathy (MYO6)
• Deafness, AD 23 (SIX1)
• Deafness, AD 25 (SLC17A8)
• Deafness, AD 28 (GRHL2)
• Deafness, AD 2A (KCNQ4)
• Deafness, AD 2B (GJB3)
• Deafness, AD 36 (TMC1)
• Deafness, AD 39, with dentinogenesis (DSPP)
• Deafness, AD 3A (GJB2)
• Deafness, AD 3B (GJB6)
• Deafness, AD 40 (CRYM)
• Deafness, AD 41 (P2RX2)
• Deafness, AD 44 (CCDC50)
• Deafness, AD 4A (MYH14)
• Deafness, AD 4B (CEACAM16)
• Deafness, AD 56 (TNC)
• Deafness, AD 6/14/38 (WFS1)
• Deafness, AD 64 (DIABLO)
• Deafness, AD 65 (TBC1D24)
• Deafness, AD 68 (HOMER2)
• Deafness, AD 69, unilateral/asymmetric (KITLG)
• Deafness, AD 7 (LMX1A)
• Deafness, AD 71 (DMXL2)
• Deafness, AD 76 (PLS1)
• Deafness, AD 77 (ABCC1)
• Deafness, AD 8/12 (TECTA)
• Deafness, AD 80 (GREB1L)
• Deafness, AD 81 (ELMOD3)
• Deafness, AD 9 (COCH)
• Deafness, AD [panelapp] (TOP2B)
• Deafness, AD, with peripheral neuropathy (GJB3)
• Deafness, Ad 37 (COL11A1)
• Deafness, DIG, GJB2/GJB3 (GJB3)
• Deafness, congenital, with onychodystrophy, AD (ATP6V1B2)
• Deafness, neurosensory, without vestibular involvement, AD (ESPN)
• Developmental delay, impaired growth, dysmorphic facies + axonal neuropathy (MORC2)
• Diets-Jongmans syndrome (KDM3B)
• Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
• Hypoparathyroidism, sensorineural deafness + renal dysplasia (GATA)3
• Microtia with/-out hearing impairment (HOXA2)
• Nonsyndromic genetic deafness MONDO:0019497 (THOC1)
• Nonsyndromic hearing loss [panelapp] (TOP2B)
• Optic atrophy plus syndrome (OPA1)
• Piebaldism (KIT, SNAI2)
• Saul-Wilson syndrome (COG4)
• Sensorineural hearing loss [panelapp] (STXBP3)
• Sensorineural hearing loss [panelapp] (TMTC2)
• Tietz albinism-deafness syndrome (MITF)
• Townes-Brocks branchiootorenal-like syndrome (SALL1)
• Townes-Brocks syndrome 1 (SALL1)
• Waardenburg syndrome, type 1 + 3 (PAX3)
• Waardenburg syndrome, type 2A (MITF)
• Waardenburg syndrome, type 2D (SNAI2)
• Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
• Waardenburg syndrome, type 4A (EDBRB)
• Waardenburg syndrome, type 4B (EDN3)
• Waardenburg syndrome, type 4C (SOX10)