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Otosclerosis 1(OTSC1)

MedGen UID:
1639517
Concept ID:
C4551901
Disease or Syndrome
Synonym: OTSC1
 
Monarch Initiative: MONDO:0008164
OMIM®: 166800

Clinical features

From HPO
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Otosclerosis
MedGen UID:
10508
Concept ID:
C0029899
Disease or Syndrome
Clinical otosclerosis, the single most common cause of hearing impairment, is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. Otosclerotic foci invade the stapediovestibular joint (oval window) and interfere with free motion of the stapes. Mean age of onset is in the third decade and 90% of affected persons are under 50 years of age at the time of diagnosis. Approximately 10% of affected persons develop profound sensorineural hearing loss across all frequencies (summary by Tomek et al., 1998). Genetic Heterogeneity of Otosclerosis The locus associated with otosclerosis-1 (OTSC1) has been mapped to chromosome 15q26.1. Other loci associated with otosclerosis include OTSC2 (605727) on chromosome 7q; OTSC3 (608244) on chromosome 6p; OTSC4 (611571) on chromosome 16q; OTSC5 (608787) on chromosome 3q22-q24; OTSC7 (611572) on chromosome 6q13; OTSC8 (612096) on chromosome 9p13.1-q21.11; and OTSC10 (615589) on chromosome 1q41-q44. OTSC11 (620576) is caused by mutation in the FOXL1 gene (603252) on chromosome 16q24. OTSC12 (620792) is caused by mutation in the SMARCA4 gene (603254) on chromosome 19p13. The symbols OTSC6 and OTSC9 were reserved by the HUGO Gene Nomenclature Committee on January 30, 2003 and February 10, 2009, respectively, for as yet unpublished loci for otosclerosis.

Professional guidelines

PubMed

Silva VAR, Pauna HF, Lavinsky J, Guimarães GC, Abrahão NM, Massuda ET, Vianna MF, Ikino CMY, Santos VM, Polanski JF, Silva MNLD, Sampaio ALL, Zanini RVR, Lourençone LFM, Denaro MMC, Calil DB, Chone CT, Castilho AM
Braz J Otorhinolaryngol 2023 Sep-Oct;89(5):101303. Epub 2023 Aug 17 doi: 10.1016/j.bjorl.2023.101303. PMID: 37647735Free PMC Article
Varadarajan VV, Sydlowski SA, Li MM, Anne S, Adunka OF
Ear Nose Throat J 2021 Jan;100(1):31-37. Epub 2020 Aug 17 doi: 10.1177/0145561320947258. PMID: 32804575
Kan T, Ueda H, Kishimoto M, Tsuchiya Y, Ogawa T, Uchida Y
Auris Nasus Larynx 2020 Jun;47(3):343-347. Epub 2020 May 4 doi: 10.1016/j.anl.2020.03.009. PMID: 32370914

Recent clinical studies

Etiology

Akazawa K, Ohta S, Tsuzuki K, Sakagami M
Otol Neurotol 2018 Jan;39(1):6-11. doi: 10.1097/MAO.0000000000001619. PMID: 29227983
Dudau C, Salim F, Jiang D, Connor SE
Eur Radiol 2017 Mar;27(3):1195-1201. Epub 2016 Jun 30 doi: 10.1007/s00330-016-4446-8. PMID: 27364152
Drug Ther Bull 2013 Feb;51(2):20-4. doi: 10.1136/dtb.2013.1.0162. PMID: 23406991
Ohta S, Sakagami M, Suzuki M, Mishiro Y
Otol Neurotol 2009 Jan;30(1):48-53. doi: 10.1097/MAO.0b013e31818de5b3. PMID: 18957901
Saeed SR, Briggs M, Lobo C, Al-Zoubi F, Ramsden RT, Read AP
Adv Otorhinolaryngol 2007;65:75-85. doi: 10.1159/000098675. PMID: 17245027

Diagnosis

Dudau C, Salim F, Jiang D, Connor SE
Eur Radiol 2017 Mar;27(3):1195-1201. Epub 2016 Jun 30 doi: 10.1007/s00330-016-4446-8. PMID: 27364152
Dağkıran M, Dağkıran N, Sürmelioğlu Ö, Ballı T, Tuncer Ü, Akgül E, Çetik F
J Int Adv Otol 2016 Apr;12(1):43-8. doi: 10.5152/iao.2015.1450. PMID: 27340982
Uppal S, Bajaj Y, Rustom I, Coatesworth AP
Int J Clin Pract 2009 Oct;63(10):1526-30. doi: 10.1111/j.1742-1241.2009.02045.x. PMID: 19769709
Angeli SI, Yan D, Telischi F, Balkany TJ, Ouyang XM, Du LL, Eshraghi A, Goodwin L, Liu XZ
Otolaryngol Head Neck Surg 2005 Jun;132(6):890-5. doi: 10.1016/j.otohns.2005.03.001. PMID: 15944560
Bel J, Causse J, Michaux P
Audiology 1975 Mar-Apr;14(2):118-29. doi: 10.3109/00206097509071728. PMID: 1131117

Therapy

Akazawa K, Ohta S, Tsuzuki K, Sakagami M
Otol Neurotol 2018 Jan;39(1):6-11. doi: 10.1097/MAO.0000000000001619. PMID: 29227983
Drug Ther Bull 2013 Feb;51(2):20-4. doi: 10.1136/dtb.2013.1.0162. PMID: 23406991

Prognosis

Dudau C, Salim F, Jiang D, Connor SE
Eur Radiol 2017 Mar;27(3):1195-1201. Epub 2016 Jun 30 doi: 10.1007/s00330-016-4446-8. PMID: 27364152
Dağkıran M, Dağkıran N, Sürmelioğlu Ö, Ballı T, Tuncer Ü, Akgül E, Çetik F
J Int Adv Otol 2016 Apr;12(1):43-8. doi: 10.5152/iao.2015.1450. PMID: 27340982

Clinical prediction guides

Dudau C, Salim F, Jiang D, Connor SE
Eur Radiol 2017 Mar;27(3):1195-1201. Epub 2016 Jun 30 doi: 10.1007/s00330-016-4446-8. PMID: 27364152
Dağkıran M, Dağkıran N, Sürmelioğlu Ö, Ballı T, Tuncer Ü, Akgül E, Çetik F
J Int Adv Otol 2016 Apr;12(1):43-8. doi: 10.5152/iao.2015.1450. PMID: 27340982

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