Have questions? Visit https://www.reddit.com/r/SNPedia

Deafness

From SNPedia

Wikipedia Hearing loss can be inherited. Around 75–80% of all cases are inherited by recessive genes, 20–25% are inherited by dominant genes, 1–2% are inherited by X-linked patterns, and fewer than 1% are inherited by mitochondrial inheritance.[1]

When looking at the genetics of deafness, there are 2 different forms, syndromic and nonsyndromic. Syndromic deafness occurs when there are other medical problems aside from deafness in an individual. This accounts for around 30% of deaf individuals who are deaf from a genetic standpoint. Nonsyndromic deafness occurs when there are no other problems associated with an individual other than deafness. From a genetic standpoint, this accounts for the other 70% of cases, which attributes to the vast majority of hereditary hearing loss. Syndromic cases occur with diseases such as Usher syndrome, Stickler, Waardenburg syndrome, Alport's Syndrome, and Neurofibromatosis type 2. These are diseases that have deafness as one of the symptoms or a common feature associated with it. The genetics that correspond with these various diseases are very complicated and are difficult to explain scientifically because the cause is unknown. In nonsyndromic cases where deafness is the only ‘symptom’ seen in the individual it is easier to pinpoint the physical genes.

Recent gene mapping has identified dozens of nonsyndromic dominant (DFNA#) and recessive (DFNB#) forms of deafness.

  • The first gene mapped for non-syndromic deafness, DFNA1, involves a splice site mutation in the formin related homolog diaphanous 1 (DIAPH1). A single base change in a large *Costa Rican family was identified as causative in a rare form of low frequency onset progressive hearing loss with autosomal dominant inheritance exhibiting variable age of onset and complete penetrance by age 30.[PMID 9360932]
  • The most common type of congenital hearing impairment in developed countries is DFNB1, also known as Connexin 26 deafness or GJB2-related deafness. GJB-2 related deafness accounts for over half of all recessive forms of deafness; and the most common GJB-2 deafness-associated mutation in Europeans is rs80338939.[PMID 18804553]
  • The most common dominant syndromic forms of hearing impairment include Stickler syndrome and Waardenburg syndrome.
  • The most common recessive syndromic forms of hearing impairment are Pendred syndrome, Large vestibular aqueduct syndrome and Usher syndrome.
  • The congenital defect microtia can cause full or partial deafness depending upon the severity of the deformity and whether or not certain parts of the inner or middle ear are affected.
  • Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment.[PMID 20346435]

The paragraphs above are based on information in Wikipedia.


The tables below combine SNPedia data with data from the Hereditary Hearing Loss website, an excellent resource for detailed information.

Nonsyndromic, Autosomal Recessive
Locus (OMIM) Gene (SNPedia)
DFNB1A GJB2
DFNB1B GJB6
DFNB2 MYO7A
DFNB3 MYO15A
DFNB4 SLC26A4
DFNB6 TMIE
DFNB7/11 TMC1
DFNB8/10  TMPRSS3
DFNB9 OTOF
DFNB12 CDH23
DFNB15/72/95 GIPC3
DFNB16 STRC
DFNB18 USH1C
DFNB21 TECTA
DFNB22 OTOA
DFNB23 PCDH15
DFNB24 RDX
DFNB25 GRXCR1
DFNB28 TRIOBP
DFNB29 CLDN14
DFNB30 MYO3A
DFNB31 DFNB31
DFNB35 ESRRB
DFNB36 ESPN
DFNB37 MYO6
DFNB39 HGF
DFNB42 ILDR1
DFNB48 CIB2
DFNB49 MARVELD2
DFNB49 BDP1
DFNB53 COL11A2
DFNB59 DFNB59
DFNB61 SLC26A5
DFNB63 LRTOMT/COMT2
DFNB66/67 LHFPL5
DFNB70 PNPT1
DFNB74 MSRB3
DFNB77 LOXHD1
DFNB79 TPRN
DFNB82 GPSM2
DFNB84 PTPRQ
DFNB84 OTOGL
DFNB86 TBC1D24
DFNB88 ELMOD3
DFNB89 KARS
DFNB91 GJB3
DFNB93 CABP2
DFNB98 TSPEAR
Nonsyndromic, Autosomal Dominant
Locus (OMIM) Gene (SNPedia)
CRYM
DFNA1 DIAPH1
DFNA2A KCNQ4
DFNA2B GJB3
DFNA3A GJB2 
DFNA3B GJB6 
DFNA4A MYH14
DFNA4B CEACAM16
DFNA5 DFNA5
DFNA6/14/38 WFS1
DFNA8/12 TECTA
DFNA9 COCH
DFNA10 EYA4
DFNA11 MYO7A
DFNA13 COL11A2
DFNA15 POU4F3
DFNA17 MYH9
DFNA20/26 ACTG1
DFNA22 MYO6
DFNA23 SIX1
DFNA25 SLC17A8
DFNA28 GRHL2 
DFNA36 TMC1
DFNA41 P2RX2
DFNA44 CCDC50
DFNA48 MYO1A
DFNA50 MIR96
DFNA51 TJP2
DFNA56 TNC
DFNA64 DIABLO
Nonsyndromic, X-Linked
Locus (OMIM) Gene (SNPedia)
DFNX1 PRPS1
DFNX2 POU3F4
DFNX4 SMPX
COL4A6
Nonsyndromic, AUNA
Locus (OMIM) Gene (SNPedia)
AUNA1 DIAPH3
Syndromic, Alport
Locus (OMIM) Gene (SNPedia)
[2] COL4A5
[3] COL4A3,COL4A4
Syndromic, Branchio-oto-renal
Locus (OMIM) Gene (SNPedia)
BOR1 EYA1
BOR2 SIX5
unknown
BOS3 SIX1
Syndromic, CHARGE
Locus (OMIM) Gene (SNPedia)
CHARGE SEMA3E
CHARGE CHD7
Syndromic, Jervell & Lange-Nielsen
Locus (OMIM) Gene (SNPedia)
JLNS1 KCNQ1
JLNS2 KCNE1
Syndromic, Norrie
Locus (OMIM) Gene (SNPedia)
NDP NDP
Syndromic, Pendred
Locus (OMIM) Gene (SNPedia)
PDS SLC26A4
PDS FOXI1
PDS KCNJ10
Syndromic, Stickler
Locus (OMIM) Gene (SNPedia)
STL1 COL2A1
STL2 COL11A1
STL3 COL11A2
COL9A1
COL9A2
Syndromic, Treacher Collins
Locus (OMIM) Gene (SNPedia)
TCOF1 TCOF1
POLR1D POLR1D
POLR1C POLR1C
Syndromic, Usher
Locus (OMIM) Gene (SNPedia)
USH1A nonexistent
USH1B MYO7A
USH1C USH1C
USH1D CDH23
USH1E unknown
USH1F PCDH15
USH1G USH1G
USH1H unknown
USH1J CIB2
USH1K unknown
USH2A USH2A
USH2B unknown
USH2C GPR98
USH2D DFNB31
USH3,USH3 CLRN1
PDZD7
Syndromic, Waardenburg
Locus (OMIM) Gene (SNPedia)
type I PAX3
type IIA MITF
type IIB unknown
type IIC unknown
type IID SNAI2
type III PAX3
type IV EDNRB
type IV EDN3
type IV SOX10
Syndromic, Perrault syndrome
Locus (OMIM) Gene (SNPedia)
HSD17B4
HARS2
DFNB81 CLPP
LARS2