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Zpráva o onemocněních · Otolaryngological

Connexin 26 Hearing Loss

Whole genome sequencing identifies all GJB2 variants and the linked GJB6 deletions that cause digenic hearing loss, providing the molecular diagnosis that predicts audiological trajectory and cochlear implant candidacy.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

A comprehensive review or discussion, typically by a group of experts, on the causes, diagnosis, treatment, and prevention of impaired hearing, encompassing a range from mild loss to profound deafness.

Pathogenic variants in GJB2 (connexin 26, chromosome 13q12.11) are the most common cause of non-syndromic sensorineural hearing loss worldwide, accounting for approximately 50% of autosomal recessive hereditary deafness and approximately 20-30% of all genetic hearing loss. GJB2 encodes connexin 26, a gap junction protein essential for potassium recycling in the cochlea, the process that maintains the endocochlear potential required for hair cell mechanotransduction. Carrier frequency is approximately 1 in 25-35 in most populations, comparable to or higher than CFTR (cystic fibrosis) carrier frequency.

The most common GJB2 pathogenic variant in European populations is c.35delG (35delG), accounting for approximately 70% of disease alleles. In East Asian populations, c.235delC predominates; in Ashkenazi Jews, c.167delT. Over 300 GJB2 pathogenic variants have been reported. Hearing loss in biallelic GJB2 is typically congenital, bilateral, sensorineural, and stable (non-progressive), distinguishing it from SLC26A4-related hearing loss which is characteristically progressive and fluctuating. Severity ranges from mild to profound depending on the specific variant combination: two truncating variants typically cause severe-to-profound loss; compound heterozygosity with missense variants may produce mild-to-moderate loss.

Cochlear implantation outcomes in GJB2-related deafness are excellent (typically superior to outcomes for other causes of deafness) because the pathology is limited to the cochlear gap junction system while the spiral ganglion neurons (which the cochlear implant stimulates) are preserved. This genotype-outcome correlation directly influences cochlear implant candidacy and timing decisions. Additionally, GJB6 (connexin 30) deletions on the same chromosome can cause hearing loss in trans with a single GJB2 variant (digenic inheritance), explaining some cases of apparent monoallelic GJB2 hearing loss.

Cochlear implant outcomes are superior in GJB2-related deafness compared to most other causes: spiral ganglion neurons are preserved. This genotype-outcome data directly influences cochlear implant candidacy and timing.

Všech 5 onemocnění, která analyzujeme

Hearing Loss, Mixed Conductive-Sensorineural

Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.

Známé také jako

mixed hearing loss; Losses, mixed hearing; mixed conductive and sensorineural deafness; mixed conductive and sensorineural hearing loss

MONDO:0044001MedGen 102336

Nonsyndromic Genetic Hearing Loss

Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

Co se diagnózou změní

Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

Analyzované geny

Známé také jako

familial deafness; isolated genetic deafness; non-syndromic genetic deafness; nonsyndromic deafness; nonsyndromic genetic deafness; nonsyndromic hearing loss

Zahrnuty jsou také specifické formy

Zahrnuje 193 příbuzných podtypů ↓
  • autosomal dominant auditory neuropathy 1
  • autosomal dominant nonsyndromic hearing loss
  • autosomal dominant nonsyndromic hearing loss 1
  • autosomal dominant nonsyndromic hearing loss 10
  • autosomal dominant nonsyndromic hearing loss 11
  • autosomal dominant nonsyndromic hearing loss 12
  • autosomal dominant nonsyndromic hearing loss 13
  • autosomal dominant nonsyndromic hearing loss 15
  • autosomal dominant nonsyndromic hearing loss 16
  • autosomal dominant nonsyndromic hearing loss 17
  • autosomal dominant nonsyndromic hearing loss 18
  • autosomal dominant nonsyndromic hearing loss 20
  • autosomal dominant nonsyndromic hearing loss 21
  • autosomal dominant nonsyndromic hearing loss 22
  • autosomal dominant nonsyndromic hearing loss 23
  • autosomal dominant nonsyndromic hearing loss 24
  • autosomal dominant nonsyndromic hearing loss 25
  • autosomal dominant nonsyndromic hearing loss 27
  • autosomal dominant nonsyndromic hearing loss 28
  • autosomal dominant nonsyndromic hearing loss 2A
  • autosomal dominant nonsyndromic hearing loss 2B
  • autosomal dominant nonsyndromic hearing loss 30
  • autosomal dominant nonsyndromic hearing loss 31
  • autosomal dominant nonsyndromic hearing loss 33
  • autosomal dominant nonsyndromic hearing loss 36
  • autosomal dominant nonsyndromic hearing loss 3A
  • autosomal dominant nonsyndromic hearing loss 3B
  • autosomal dominant nonsyndromic hearing loss 40
  • autosomal dominant nonsyndromic hearing loss 41
  • autosomal dominant nonsyndromic hearing loss 43
  • autosomal dominant nonsyndromic hearing loss 44
  • autosomal dominant nonsyndromic hearing loss 47
  • autosomal dominant nonsyndromic hearing loss 48
  • autosomal dominant nonsyndromic hearing loss 49
  • autosomal dominant nonsyndromic hearing loss 4A
  • autosomal dominant nonsyndromic hearing loss 4B
  • autosomal dominant nonsyndromic hearing loss 5
  • autosomal dominant nonsyndromic hearing loss 50
  • autosomal dominant nonsyndromic hearing loss 51
  • autosomal dominant nonsyndromic hearing loss 53
  • autosomal dominant nonsyndromic hearing loss 54
  • autosomal dominant nonsyndromic hearing loss 56
  • autosomal dominant nonsyndromic hearing loss 58
  • autosomal dominant nonsyndromic hearing loss 59
  • autosomal dominant nonsyndromic hearing loss 6
  • autosomal dominant nonsyndromic hearing loss 64
  • autosomal dominant nonsyndromic hearing loss 65
  • autosomal dominant nonsyndromic hearing loss 66
  • autosomal dominant nonsyndromic hearing loss 67
  • autosomal dominant nonsyndromic hearing loss 68
  • autosomal dominant nonsyndromic hearing loss 69
  • autosomal dominant nonsyndromic hearing loss 7
  • autosomal dominant nonsyndromic hearing loss 70
  • autosomal dominant nonsyndromic hearing loss 9
  • autosomal dominant nonsyndromic hearing loss 91
  • autosomal recessive nonsyndromic hearing loss 101
  • autosomal recessive nonsyndromic hearing loss 102
  • autosomal recessive nonsyndromic hearing loss 103
  • autosomal recessive nonsyndromic hearing loss 104
  • autosomal recessive nonsyndromic hearing loss 12
  • autosomal recessive nonsyndromic hearing loss 124
  • autosomal recessive nonsyndromic hearing loss 13
  • autosomal recessive nonsyndromic hearing loss 14
  • autosomal recessive nonsyndromic hearing loss 15
  • autosomal recessive nonsyndromic hearing loss 16
  • autosomal recessive nonsyndromic hearing loss 17
  • autosomal recessive nonsyndromic hearing loss 18A
  • autosomal recessive nonsyndromic hearing loss 18B
  • autosomal recessive nonsyndromic hearing loss 1A
  • autosomal recessive nonsyndromic hearing loss 1B
  • autosomal recessive nonsyndromic hearing loss 2
  • autosomal recessive nonsyndromic hearing loss 20
  • autosomal recessive nonsyndromic hearing loss 21
  • autosomal recessive nonsyndromic hearing loss 22
  • autosomal recessive nonsyndromic hearing loss 23
  • autosomal recessive nonsyndromic hearing loss 24
  • autosomal recessive nonsyndromic hearing loss 25
  • autosomal recessive nonsyndromic hearing loss 26
  • autosomal recessive nonsyndromic hearing loss 27
  • autosomal recessive nonsyndromic hearing loss 28
  • autosomal recessive nonsyndromic hearing loss 29
  • autosomal recessive nonsyndromic hearing loss 3
  • autosomal recessive nonsyndromic hearing loss 30
  • autosomal recessive nonsyndromic hearing loss 31
  • autosomal recessive nonsyndromic hearing loss 32
  • autosomal recessive nonsyndromic hearing loss 33
  • autosomal recessive nonsyndromic hearing loss 35
  • autosomal recessive nonsyndromic hearing loss 36
  • autosomal recessive nonsyndromic hearing loss 37
  • autosomal recessive nonsyndromic hearing loss 38
  • autosomal recessive nonsyndromic hearing loss 39
  • autosomal recessive nonsyndromic hearing loss 4
  • autosomal recessive nonsyndromic hearing loss 40
  • autosomal recessive nonsyndromic hearing loss 42
  • autosomal recessive nonsyndromic hearing loss 44
  • autosomal recessive nonsyndromic hearing loss 45
  • autosomal recessive nonsyndromic hearing loss 46
  • autosomal recessive nonsyndromic hearing loss 47
  • autosomal recessive nonsyndromic hearing loss 48
  • autosomal recessive nonsyndromic hearing loss 49
  • autosomal recessive nonsyndromic hearing loss 5
  • autosomal recessive nonsyndromic hearing loss 51
  • autosomal recessive nonsyndromic hearing loss 53
  • autosomal recessive nonsyndromic hearing loss 55
  • autosomal recessive nonsyndromic hearing loss 59
  • autosomal recessive nonsyndromic hearing loss 6
  • autosomal recessive nonsyndromic hearing loss 61
  • autosomal recessive nonsyndromic hearing loss 62
  • autosomal recessive nonsyndromic hearing loss 63
  • autosomal recessive nonsyndromic hearing loss 65
  • autosomal recessive nonsyndromic hearing loss 66
  • autosomal recessive nonsyndromic hearing loss 67
  • autosomal recessive nonsyndromic hearing loss 68
  • autosomal recessive nonsyndromic hearing loss 7
  • autosomal recessive nonsyndromic hearing loss 70
  • autosomal recessive nonsyndromic hearing loss 71
  • autosomal recessive nonsyndromic hearing loss 74
  • autosomal recessive nonsyndromic hearing loss 76
  • autosomal recessive nonsyndromic hearing loss 77
  • autosomal recessive nonsyndromic hearing loss 79
  • autosomal recessive nonsyndromic hearing loss 8
  • autosomal recessive nonsyndromic hearing loss 83
  • autosomal recessive nonsyndromic hearing loss 84A
  • autosomal recessive nonsyndromic hearing loss 84B
  • autosomal recessive nonsyndromic hearing loss 85
  • autosomal recessive nonsyndromic hearing loss 86
  • autosomal recessive nonsyndromic hearing loss 88
  • autosomal recessive nonsyndromic hearing loss 89
  • autosomal recessive nonsyndromic hearing loss 9
  • autosomal recessive nonsyndromic hearing loss 91
  • autosomal recessive nonsyndromic hearing loss 93
  • autosomal recessive nonsyndromic hearing loss 96
  • autosomal recessive nonsyndromic hearing loss 97
  • autosomal recessive nonsyndromic hearing loss 98
  • deafness, aminoglycoside-induced
  • deafness, Y-linked 2
  • hearing loss, autosomal dominant 34, with or without inflammation
  • hearing loss, autosomal dominant 37
  • hearing loss, autosomal dominant 71
  • hearing loss, autosomal dominant 72
  • hearing loss, autosomal dominant 73
  • hearing loss, autosomal dominant 74
  • hearing loss, autosomal dominant 75
  • hearing loss, autosomal dominant 76
  • hearing loss, autosomal dominant 77
  • hearing loss, autosomal dominant 78
  • hearing loss, autosomal dominant 79
  • hearing loss, autosomal dominant 80
  • hearing loss, autosomal dominant 81
  • hearing loss, autosomal dominant 82
  • hearing loss, autosomal dominant 83
  • hearing loss, autosomal dominant 84
  • hearing loss, autosomal dominant 85
  • hearing loss, autosomal dominant 86
  • hearing loss, autosomal dominant 87
  • hearing loss, autosomal dominant 88
  • hearing loss, autosomal dominant 89
  • hearing loss, autosomal dominant 90
  • hearing loss, autosomal recessive
  • hearing loss, autosomal recessive 100
  • hearing loss, autosomal recessive 106
  • hearing loss, autosomal recessive 107
  • hearing loss, autosomal recessive 108
  • hearing loss, autosomal recessive 109
  • hearing loss, autosomal recessive 110
  • hearing loss, autosomal recessive 111
  • hearing loss, autosomal recessive 112
  • hearing loss, autosomal recessive 113
  • hearing loss, autosomal recessive 114
  • hearing loss, autosomal recessive 115
  • hearing loss, autosomal recessive 116
  • hearing loss, autosomal recessive 117
  • hearing loss, autosomal recessive 118, with cochlear aplasia
  • hearing loss, autosomal recessive 119
  • hearing loss, autosomal recessive 120
  • hearing loss, autosomal recessive 121
  • hearing loss, autosomal recessive 122
  • hearing loss, autosomal recessive 123
  • hearing loss, autosomal recessive 125
  • hearing loss, autosomal recessive 57
  • hearing loss, autosomal recessive 94
  • hearing loss, autosomal recessive 99
  • hearing loss, X-linked 1
  • hearing loss, X-linked 3
  • hearing loss, X-linked 4
  • hearing loss, X-linked 6
  • hearing loss, Y-linked 1
  • nonsyndromic deafness, Y-linked
  • postlingual non-syndromic genetic hearing loss
  • prelingual non-syndromic genetic hearing loss
  • X-linked hereditary sensory and autonomic neuropathy with hearing loss
  • X-linked mixed hearing loss with perilymphatic gusher
  • X-linked nonsyndromic hearing loss
MONDO:0019497Orphanet 87884MedGen 1830101

Auditory Neuropathy

Hearing loss in which the inner ear detects sound but the signal is not passed on normally to the hearing nerve, including inherited forms caused by OTOF and other genes.

Co se diagnózou změní

Identifying the cause can affect the choice between hearing aids and cochlear implants, and OTOF-related forms are the subject of gene-therapy trials.

Analyzované geny

Známé také jako

ANSD; auditory dys-synchrony; auditory neuropathy spectrum disorder; familial auditory neuropathy; progressive auditory neuropathy

Zahrnuje 5 příbuzných podtypů ↓
  • auditory neuropathy, autosomal dominant 2
  • auditory neuropathy, autosomal dominant 3
  • autosomal dominant auditory neuropathy 1
  • autosomal recessive nonsyndromic hearing loss 9
  • X-linked hereditary sensory and autonomic neuropathy with hearing loss
MONDO:0021944MedGen 338895

Proč sekvenování celého genomu

GJB2 carrier frequency of 1 in 25-35 is one of the highest for any recessive disease gene. Universal carrier screening identifies at-risk couples before the birth of a deaf child, enabling immediate neonatal intervention.

1 in 25-35 people carry a GJB2 variant: universal carrier screening identifies more at-risk couples than any gene-specific panel

At a carrier frequency of approximately 1 in 30, approximately 1 in 900 couples are both GJB2 carriers, and approximately 1 in 3,600 births will have GJB2-related hearing loss. Despite being more common than cystic fibrosis, GJB2 is not included in most commercial carrier screening panels. Whole genome sequencing identifies GJB2 carrier status alongside all other carrier genes in a single comprehensive evaluation, enabling preconception counseling and immediate newborn hearing intervention planning for identified carrier couples.

GJB6 deletions cause digenic hearing loss with GJB2, explaining 'missing' second alleles in apparent GJB2 carriers

Approximately 5-10% of patients with hearing loss who carry a single GJB2 pathogenic variant have a large deletion in GJB6 (connexin 30) on the homologous chromosome, a digenic or contiguous gene deletion mechanism. Standard GJB2 sequencing-only panels classify these patients as 'carriers' rather than affected individuals, missing the molecular diagnosis. Whole genome sequencing detects both GJB2 sequence variants and GJB6 structural deletions from the same dataset, resolving the complete connexin hearing loss genotype.

Další otolaryngological conditions

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Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

Od 449 $

Doprava zdarma · Výsledky za 6–8 týdnů

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