Entry - %608394 - DEAFNESS, AUTOSOMAL DOMINANT 43; DFNA43 - OMIM

 
ICD+
% 608394

DEAFNESS, AUTOSOMAL DOMINANT 43; DFNA43


Cytogenetic location: 2p12     Genomic coordinates (GRCh38): 2:74,800,001-83,100,000


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
2p12 Deafness, autosomal dominant 43 608394 AD 2
Clinical Synopsis
 
Phenotypic Series
 

INHERITANCE
- Autosomal dominant
HEAD & NECK
Ears
- Hearing loss, sensorineural, bilateral symmetrical, progressive (severe later in life)
- Tinnitus (variable manifestation)
MISCELLANEOUS
- Onset during the second/third decade of life with high frequency loss slowly progressing and extending to all frequencies by the fifth/sixth decade of life
- One 3-generation Italian family has been described (last curated August 2015)
▲ Close
Deafness, autosomal dominant - PS124900 - 76 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.12 Deafness, autosomal dominant 85 AD 3 620227 USP48 617445
1p34.3 Deafness, autosomal dominant 2B AD 3 612644 GJB3 603324
1p34.3 ?Deafness, autosomal dominant 88 AD 3 620283 EPHA10 611123
1p34.2 Deafness, autosomal dominant 2A AD 3 600101 KCNQ4 603537
1p21.1 Deafness, autosomal dominant 37 AD 3 618533 COL11A1 120280
1q21-q23 Deafness, autosomal dominant 49 AD 2 608372 DFNA49 608372
1q21.3 Deafness, autosomal dominant 87 AD 3 620281 PI4KB 602758
1q23.3 Deafness, autosomal dominant 7 AD 3 601412 LMX1A 600298
1q44 Deafness, autosomal dominant 34, with or without inflammation AD 3 617772 NLRP3 606416
2p21-p12 Deafness, autosomal dominant 58 AD 4 615654 DFNA58 615654
2p12 Deafness, autosomal dominant 43 AD 2 608394 DFNA43 608394
2p11.2 ?Deafness, autosomal dominant 81 AD 3 619500 ELMOD3 615427
2q23-q24.3 Deafness, autosomal dominant 16 AD 2 603964 DFNA16 603964
3p25.3 Deafness, autosomal dominant 82 AD 3 619804 ATP2B2 108733
3q21.3 ?Deafness, autosomal dominant 70 AD 3 616968 MCM2 116945
3q22 Deafness, autosomal dominant 18 AD 2 606012 DFNA18 606012
3q23 Deafness, autosomal dominant 76 AD 3 618787 PLS1 602734
3q28 ?Deafness, autosomal dominant 44 AD 3 607453 CCDC50 611051
4p16.1 Deafness, autosomal dominant 6/14/38 AD 3 600965 WFS1 606201
4q12 Deafness, autosomal dominant 27 AD 3 612431 REST 600571
4q21.22 ?Deafness, autosomal dominant 79 AD 3 619086 SCD5 608370
4q22.2 ?Deafness, autosomal dominant 89 AD 3 620284 ATOH1 601461
4q35-qter Deafness, autosomal dominant 24 AD 2 606282 DFNA24 606282
5q13.2 ?Deafness, autosomal dominant 83 AD 3 619808 MAP1B 157129
5q23.3 Deafness, autosomal dominant 78 AD 3 619081 SLC12A2 600840
5q31.1-q32 Deafness, autosomal dominant 52 AD 2 607683 DFNA52 607683
5q31 Deafness, autosomal dominant 54 AD 2 615649 DFNA54 615649
5q31.3 Deafness, autosomal dominant 1, with or without thrombocytopenia AD 3 124900 DIAPH1 602121
5q32 Deafness, autosomal dominant 15 AD 3 602459 POU4F3 602460
6p22.3 Deafness, autosomal dominant 21 AD 3 607017 RIPOR2 611410
6p21.3 Deafness, autosomal dominant 31 AD 2 608645 DFNA31 608645
6p21.33 ?Deafness, autosomal dominant 72 AD 3 617606 SLC44A4 606107
6p21.32 Deafness, autosomal dominant 13 AD 3 601868 COL11A2 120290
6q14.1 Deafness, autosomal dominant 22 AD 3 606346 MYO6 600970
6q14.1 Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy AD 3 606346 MYO6 600970
6q21 ?Deafness, autosomal dominant 66 AD 3 616969 CD164 603356
6q23.2 Deafness, autosomal dominant 10 AD 3 601316 EYA4 603550
7p15.3 Deafness, autosomal dominant 5 AD 3 600994 GSDME 608798
7p14.3 ?Deafness, autosomal dominant 74 AD 3 618140 PDE1C 602987
7q22.1 ?Deafness, autosomal dominant 75 AD 3 618778 TRRAP 603015
7q32.2 Deafness, autosomal dominant 50 AD 3 613074 MIR96 611606
8q22.3 Deafness, autosomal dominant 28 AD 3 608641 GRHL2 608576
9p22-p21 Deafness, autosomal dominant 47 AD 2 608652 DFNA47 608652
9q21.11 Deafness, autosomal dominant 51 AD 4 613558 DFNA51 613558
9q21.13 Deafness, autosomal dominant 36 AD 3 606705 TMC1 606706
9q33.1 Deafness, autosomal dominant 56 AD 3 615629 TNC 187380
10p12.1 Deafness, autosomal dominant 90 AD 3 620722 MYO3A 606808
11p14.2-q12.3 Deafness, autosomal dominant 59 AD 2 612642 DFNA59 612642
11q13.5 Deafness, autosomal dominant 11 AD 3 601317 MYO7A 276903
11q23.3 Deafness, autosomal dominant 8/12 AD 3 601543 TECTA 602574
12q13-q14 Deafness, autosomal dominant 48 AD 2 607841 DFNA48 607841
12q21.31 Deafness, autosomal dominant 73 AD 3 617663 PTPRQ 603317
12q21.32 Deafness, autosomal dominant 69, unilateral or asymmetric AD 3 616697 KITLG 184745
12q23.1 Deafness, autosomal dominant 25 AD 3 605583 SLC17A8 607557
12q24.31 Deafness, autosomal dominant 64 AD 3 614152 DIABLO 605219
12q24.33 Deafness, autosomal dominant 41 AD 3 608224 P2RX2 600844
13q12.11 Deafness, autosomal dominant 3A AD 3 601544 GJB2 121011
13q12.11 Deafness, autosomal dominant 3B AD 3 612643 GJB6 604418
13q34 Deafness, autosomal dominant 33 AD 2 614211 DFNA33 614211
13q34 Deafness, autosomal dominant 84 AD 3 619810 ATP11A 605868
14q11.2-q12 Deafness, autosomal dominant 53 AD 2 609965 DFNA53 609965
14q12 Deafness, autosomal dominant 9 AD 3 601369 COCH 603196
14q23.1 Deafness, autosomal dominant 23 AD 3 605192 SIX1 601205
15q21.2 ?Deafness, autosomal dominant 71 AD 3 617605 DMXL2 612186
15q25-q26 Deafness, autosomal dominant 30 AD 2 606451 DFNA30 606451
15q25.2 ?Deafness, autosomal dominant 68 AD 3 616707 HOMER2 604799
16p13.3 Deafness, autosomal dominant 65 AD 3 616044 TBC1D24 613577
16p13.11 ?Deafness, autosomal dominant 77 AD 3 618915 ABCC1 158343
16p12.2 Deafness, autosomal dominant 40 AD 3 616357 CRYM 123740
17q25.3 Deafness, autosomal dominant 20/26 AD 3 604717 ACTG1 102560
18p11.32 ?Deafness, autosomal dominant 86 AD 3 620280 THOC1 606930
18q11.1-q11.2 Deafness, autosomal dominant 80 AD 3 619274 GREB1L 617782
19q13.31-q13.32 Deafness, autosomal dominant 4B AD 3 614614 CEACAM16 614591
19q13.33 Deafness, autosomal dominant 4A AD 3 600652 MYH14 608568
20q13.33 Deafness, autosomal dominant 67 AD 3 616340 OSBPL2 606731
22q12.3 Deafness, autosomal dominant 17 AD 3 603622 MYH9 160775
▲ Close

TEXT

▼ Clinical Features

Flex et al. (2003) reported a 3-generation Italian family in which 15 members were affected with autosomal dominant nonsyndromic sensorineural deafness. The hearing loss, which was bilateral and symmetrical, began in the second decade of life, progressing from moderate to profound loss and ultimately involving all frequencies.


▼ Mapping

Flex et al. (2003) performed a genomewide scan in an Italian family with nonsyndromic sensorineural loss and demonstrated significant linkage with markers on chromosome 2p12 (maximum lod = 4.21 at theta = 0.0 for marker D2S139). Haplotype analysis defined a 9.6-cM disease gene interval without overlap with other identified loci.


▼ REFERENCES

  1. Flex, E., Mangino, M., Mazzoli, M., Martini, A., Migliosi, V., Colosimo, A., Mingarelli, R., Pizzuti, A., Dallapiccola, B. Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12. J. Med. Genet. 40: 278-282, 2003. [PubMed: 12676899, related citations] [Full Text]


Creation Date:
Marla J. F. O'Neill : 1/13/2004
Edit History:
carol : 01/06/2011
terry : 12/2/2008
carol : 3/18/2004
carol : 1/13/2004
carol : 1/13/2004

% 608394

DEAFNESS, AUTOSOMAL DOMINANT 43; DFNA43


ORPHA: 90635;   DO: 0110568;  


Cytogenetic location: 2p12     Genomic coordinates (GRCh38): 2:74,800,001-83,100,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
2p12 Deafness, autosomal dominant 43 608394 Autosomal dominant 2

TEXT

Clinical Features

Flex et al. (2003) reported a 3-generation Italian family in which 15 members were affected with autosomal dominant nonsyndromic sensorineural deafness. The hearing loss, which was bilateral and symmetrical, began in the second decade of life, progressing from moderate to profound loss and ultimately involving all frequencies.


Mapping

Flex et al. (2003) performed a genomewide scan in an Italian family with nonsyndromic sensorineural loss and demonstrated significant linkage with markers on chromosome 2p12 (maximum lod = 4.21 at theta = 0.0 for marker D2S139). Haplotype analysis defined a 9.6-cM disease gene interval without overlap with other identified loci.


REFERENCES

  1. Flex, E., Mangino, M., Mazzoli, M., Martini, A., Migliosi, V., Colosimo, A., Mingarelli, R., Pizzuti, A., Dallapiccola, B. Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12. J. Med. Genet. 40: 278-282, 2003. [PubMed: 12676899] [Full Text: https://doi.org/10.1136/jmg.40.4.278]


Creation Date:
Marla J. F. O'Neill : 1/13/2004

Edit History:
carol : 01/06/2011
terry : 12/2/2008
carol : 3/18/2004
carol : 1/13/2004
carol : 1/13/2004



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: April 24, 2024