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Hereditary hearing loss and deafness

MedGen UID:
65923
Concept ID:
C0236038
Disease or Syndrome
Synonyms: Hereditary hearing disorder; Hereditary hearing loss
SNOMED CT: Congenital hearing disorder (95827002)
 
Genes: SMPX; PRPS1; POU3F4; TRNS1; COX1
Cytogenetic locations: Xp22.12; Xq21.1; Xq22.3

Disease characteristics

Excerpted from the GeneReview: Deafness and Hereditary Hearing Loss Overview
Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Richard JH Smith  |  A Eliot Shearer  |  Michael S Hildebrand, et. al.   view full author information

Additional description

From NCBI curation
Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Professional guidelines

PubMed

Alford RL, Arnos KS, Fox M, Lin JW, Palmer CG, Pandya A, Rehm HL, Robin NH, Scott DA, Yoshinaga-Itano C; ACMG Working Group on Update of Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss; Professional Practice and Guidelines Committee
Genet Med 2014 Apr;16(4):347-55. Epub 2014 Mar 20 doi: 10.1038/gim.2014.2. [Epub ahead of print] PMID: 24651602
US Preventive Services Task Force
Pediatrics 2008 Jul;122(1):143-8. doi: 10.1542/peds.2007-2210. PMID: 18595997
ACMG
Genet Med 2002 May-Jun;4(3):162-71. doi: 10.109700125817-200205000-00011. PMID: 12180152Free PMC Article

External

American College of Medical Genetics ACT SHEET, Congenital Hearing Loss, 2010

National Institute for Health and Clinical Excellence, Cochlear implants for children and adults with severe to profound deafness, 2009

American College of Medical Genetics Algorithm, Hearing Loss, 2009

Recent clinical studies

Etiology

Yin A, Liu C, Zhang Y, Wu J, Mai M, Ding H, Yang J, Zhang X
Int J Pediatr Otorhinolaryngol 2014 Aug;78(8):1356-9. Epub 2014 Jun 2 doi: 10.1016/j.ijporl.2014.05.030. [Epub ahead of print] PMID: 24913939
Faletra F, Girotto G, D'Adamo AP, Vozzi D, Morgan A, Gasparini P
Gene 2014 Jan 25;534(2):236-9. Epub 2013 Nov 6 doi: 10.1016/j.gene.2013.10.052. [Epub ahead of print] PMID: 24211385
Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T
Orphanet J Rare Dis 2013 Oct 28;8:172. doi: 10.1186/1750-1172-8-172. [Epub ahead of print] PMID: 24164807Free PMC Article
Yelverton JC, Arnos K, Xia XJ, Nance WE, Pandya A, Dodson KM
Otolaryngol Head Neck Surg 2013 Jun;148(6):1017-22. Epub 2013 Mar 22 doi: 10.1177/0194599813482705. [Epub ahead of print] PMID: 23525847
Dodson KM, Georgolios A, Barr N, Nguyen B, Sismanis A, Arnos KS, Norris VW, Chapman D, Nance WE, Pandya A
Am J Otolaryngol 2012 Sep-Oct;33(5):590-4. Epub 2012 Apr 24 doi: 10.1016/j.amjoto.2012.03.005. [Epub ahead of print] PMID: 22534022

Diagnosis

Yin A, Liu C, Zhang Y, Wu J, Mai M, Ding H, Yang J, Zhang X
Int J Pediatr Otorhinolaryngol 2014 Aug;78(8):1356-9. Epub 2014 Jun 2 doi: 10.1016/j.ijporl.2014.05.030. [Epub ahead of print] PMID: 24913939
Vozzi D, Morgan A, Vuckovic D, D'Eustacchio A, Abdulhadi K, Rubinato E, Badii R, Gasparini P, Girotto G
Gene 2014 Jun 1;542(2):209-16. Epub 2014 Mar 20 doi: 10.1016/j.gene.2014.03.033. [Epub ahead of print] PMID: 24657061
Brownstein Z, Abu-Rayyan A, Karfunkel-Doron D, Sirigu S, Davidov B, Shohat M, Frydman M, Houdusse A, Kanaan M, Avraham KB
Eur J Hum Genet 2014 Jun;22(6):768-75. Epub 2013 Oct 9 doi: 10.1038/ejhg.2013.232. [Epub ahead of print] PMID: 24105371Free PMC Article
Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T
Orphanet J Rare Dis 2013 Oct 28;8:172. doi: 10.1186/1750-1172-8-172. [Epub ahead of print] PMID: 24164807Free PMC Article
Dodson KM, Georgolios A, Barr N, Nguyen B, Sismanis A, Arnos KS, Norris VW, Chapman D, Nance WE, Pandya A
Am J Otolaryngol 2012 Sep-Oct;33(5):590-4. Epub 2012 Apr 24 doi: 10.1016/j.amjoto.2012.03.005. [Epub ahead of print] PMID: 22534022

Therapy

Javidnia H, Carson N, Awubwa M, Byaruhanga R, Mack D, Vaccani JP
Laryngoscope 2014 Sep;124(9):E373-6. Epub 2014 May 2 doi: 10.1002/lary.24697. [Epub ahead of print] PMID: 24706568
Girotto G, Abdulhadi K, Buniello A, Vozzi D, Licastro D, d'Eustacchio A, Vuckovic D, Alkowari MK, Steel KP, Badii R, Gasparini P
PLoS One 2013;8(12):e80323. Epub 2013 Dec 2 doi: 10.1371/journal.pone.0080323. PMID: 24312468Free PMC Article
Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T
Orphanet J Rare Dis 2013 Oct 28;8:172. doi: 10.1186/1750-1172-8-172. [Epub ahead of print] PMID: 24164807Free PMC Article
Janeschik S, Teschendorf M, Bagus H, Arweiler-Harbeck D
Cochlear Implants Int 2013 Sep;14(4):190-9. Epub 2013 Mar 15 doi: 10.1179/1754762812Y.0000000017. [Epub ahead of print] PMID: 23510647
Chen T, Liu Q, Jiang L, Liu C, Ou Q
Genet Test Mol Biomarkers 2013 Feb;17(2):122-30. Epub 2012 Dec 20 doi: 10.1089/gtmb.2012.0251. [Epub ahead of print] PMID: 23256547Free PMC Article

Prognosis

Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK
BMC Med Genet 2014 Apr 28;15:46. doi: 10.1186/1471-2350-15-46. [Epub ahead of print] PMID: 24767429Free PMC Article
Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ
Hum Mutat 2014 Jul;35(7):819-23. Epub 2014 May 6 doi: 10.1002/humu.22557. [Epub ahead of print] PMID: 24729539Free PMC Article
Brownstein Z, Abu-Rayyan A, Karfunkel-Doron D, Sirigu S, Davidov B, Shohat M, Frydman M, Houdusse A, Kanaan M, Avraham KB
Eur J Hum Genet 2014 Jun;22(6):768-75. Epub 2013 Oct 9 doi: 10.1038/ejhg.2013.232. [Epub ahead of print] PMID: 24105371Free PMC Article
Yelverton JC, Arnos K, Xia XJ, Nance WE, Pandya A, Dodson KM
Otolaryngol Head Neck Surg 2013 Jun;148(6):1017-22. Epub 2013 Mar 22 doi: 10.1177/0194599813482705. [Epub ahead of print] PMID: 23525847
Dodson KM, Georgolios A, Barr N, Nguyen B, Sismanis A, Arnos KS, Norris VW, Chapman D, Nance WE, Pandya A
Am J Otolaryngol 2012 Sep-Oct;33(5):590-4. Epub 2012 Apr 24 doi: 10.1016/j.amjoto.2012.03.005. [Epub ahead of print] PMID: 22534022

Clinical prediction guides

Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK
BMC Med Genet 2014 Apr 28;15:46. doi: 10.1186/1471-2350-15-46. [Epub ahead of print] PMID: 24767429Free PMC Article
Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ
Hum Mutat 2014 Jul;35(7):819-23. Epub 2014 May 6 doi: 10.1002/humu.22557. [Epub ahead of print] PMID: 24729539Free PMC Article
Javidnia H, Carson N, Awubwa M, Byaruhanga R, Mack D, Vaccani JP
Laryngoscope 2014 Sep;124(9):E373-6. Epub 2014 May 2 doi: 10.1002/lary.24697. [Epub ahead of print] PMID: 24706568
Faletra F, Girotto G, D'Adamo AP, Vozzi D, Morgan A, Gasparini P
Gene 2014 Jan 25;534(2):236-9. Epub 2013 Nov 6 doi: 10.1016/j.gene.2013.10.052. [Epub ahead of print] PMID: 24211385
Brownstein Z, Abu-Rayyan A, Karfunkel-Doron D, Sirigu S, Davidov B, Shohat M, Frydman M, Houdusse A, Kanaan M, Avraham KB
Eur J Hum Genet 2014 Jun;22(6):768-75. Epub 2013 Oct 9 doi: 10.1038/ejhg.2013.232. [Epub ahead of print] PMID: 24105371Free PMC Article

Recent systematic reviews

Yu G, Yu ML, Wang JF, Gao CR, Chen ZJ
Endocrine 2010 Oct;38(2):147-52. Epub 2010 Oct 23 doi: 10.1007/s12020-010-9350-4. [Epub ahead of print] PMID: 20972738
Kanchanalarp C, Cheewaruangroj W, Thawin C, Lertsukprasert K
J Med Assoc Thai 2006 Aug;89(8):1171-7. PMID: 17048426
Masmoudi S, Tlili A, Majava M, Ghorbel AM, Chardenoux S, Lemainque A, Zina ZB, Moala J, Männikkö M, Weil D, Lathrop M, Ala-Kokko L, Drira M, Petit C, Ayadi H
Eur J Hum Genet 2003 Feb;11(2):185-8. doi: 10.1038/sj.ejhg.5200934. PMID: 12634867
Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M
Nephrol Dial Transplant 2002 Jul;17(7):1218-27. PMID: 12105244

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