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Deafness, without vestibular involvement, autosomal dominant

MedGen UID:
431810
•Concept ID:
CN068820
•
Disease or Syndrome

Professional guidelines

PubMed

Neurofibromatosis type 2 (NF2): diagnosis and management.
Lloyd SK, Evans DG
Handb Clin Neurol 2013;115:957-67. doi: 10.1016/B978-0-444-52902-2.00054-0. PMID: 23931824

Recent clinical studies

Etiology

Large vestibular aqueduct syndrome: a genetic disease?
Tong KA, Harnsberger HR, Dahlen RT, Carey JC, Ward K
AJR Am J Roentgenol 1997 Apr;168(4):1097-101. doi: 10.2214/ajr.168.4.9124122. PMID: 9124122

Diagnosis

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
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. PMID: 24164807Free PMC Article
Neurofibromatosis type 2 (NF2): diagnosis and management.
Lloyd SK, Evans DG
Handb Clin Neurol 2013;115:957-67. doi: 10.1016/B978-0-444-52902-2.00054-0. PMID: 23931824
Cervico-oculo-Acoustic syndrome in a male with consanguineous parents.
Di Maio L, Marcelli V, Vitale C, Menzione M, De Giorgio A, Briganti F, Perretti A, Marciano E, Filla A, De Michele G
Can J Neurol Sci 2006 May;33(2):237-9. doi: 10.1017/s0317167100005059. PMID: 16736738
Large vestibular aqueduct syndrome: a genetic disease?
Tong KA, Harnsberger HR, Dahlen RT, Carey JC, Ward K
AJR Am J Roentgenol 1997 Apr;168(4):1097-101. doi: 10.2214/ajr.168.4.9124122. PMID: 9124122
Eighth cranial nerve dysfunction in hyperostosis cranialis interna.
Manni JJ, Huygen PL, Noten JF, Kuijpers W
Acta Otolaryngol 1992;112(1):75-82. doi: 10.3109/00016489209100786. PMID: 1575042

Prognosis

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Booth KT, Ghaffar A, Rashid M, Hovey LT, Hussain M, Frees K, Renkes EM, Nishimura CJ, Shahzad M, Smith RJ, Ahmed Z, Azaiez H, Riazuddin S
Hum Genet 2020 Dec;139(12):1565-1574. Epub 2020 Jun 19 doi: 10.1007/s00439-020-02197-5. PMID: 32562050Free PMC Article
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.
van Beelen E, Oonk AM, Leijendeckers JM, Hoefsloot EH, Pennings RJ, Feenstra I, Dieker HJ, Huygen PL, Snik AF, Kremer H, Kunst HP
Ear Hear 2016 Jan-Feb;37(1):103-11. doi: 10.1097/AUD.0000000000000217. PMID: 26331839
Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.
Robertson NG, Hamaker SA, Patriub V, Aster JC, Morton CC
J Med Genet 2003 Jul;40(7):479-86. doi: 10.1136/jmg.40.7.479. PMID: 12843317Free PMC Article

Clinical prediction guides

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Booth KT, Ghaffar A, Rashid M, Hovey LT, Hussain M, Frees K, Renkes EM, Nishimura CJ, Shahzad M, Smith RJ, Ahmed Z, Azaiez H, Riazuddin S
Hum Genet 2020 Dec;139(12):1565-1574. Epub 2020 Jun 19 doi: 10.1007/s00439-020-02197-5. PMID: 32562050Free PMC Article
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.
van Beelen E, Oonk AM, Leijendeckers JM, Hoefsloot EH, Pennings RJ, Feenstra I, Dieker HJ, Huygen PL, Snik AF, Kremer H, Kunst HP
Ear Hear 2016 Jan-Feb;37(1):103-11. doi: 10.1097/AUD.0000000000000217. PMID: 26331839
Large vestibular aqueduct syndrome: a genetic disease?
Tong KA, Harnsberger HR, Dahlen RT, Carey JC, Ward K
AJR Am J Roentgenol 1997 Apr;168(4):1097-101. doi: 10.2214/ajr.168.4.9124122. PMID: 9124122
Eighth cranial nerve dysfunction in hyperostosis cranialis interna.
Manni JJ, Huygen PL, Noten JF, Kuijpers W
Acta Otolaryngol 1992;112(1):75-82. doi: 10.3109/00016489209100786. PMID: 1575042

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