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Autosomal dominant nonsyndromic hearing loss 6(LFSNHL)

MedGen UID:
331419
Concept ID:
C1833021
Disease or Syndrome
Synonyms: Autosomal dominant nonsyndromic deafness 6; DEAFNESS, AUTOSOMAL DOMINANT 14; DEAFNESS, AUTOSOMAL DOMINANT 38; DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss; LFSNHL; WFS1-Related Low-Frequency Sensory Hearing Loss
 
Gene (location): WFS1 (4p16.1)
Related gene: CISD2
 
Monarch Initiative: MONDO:0010963
OMIM®: 600965

Definition

WFS1 Wolfram syndrome spectrum disorder (WFS1-WSSD) is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus (DM) and optic atrophy (OA) before age 16 years, and typically associated with other endocrine abnormalities, sensorineural hearing loss, and progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract atony). Although DM is mostly insulin-dependent, overall the course is milder (with lower prevalence of microvascular disease) than that seen in isolated DM. OA typically results in significantly reduced visual acuity in the first decade. Sensorineural hearing impairment ranges from congenital deafness to milder, sometimes progressive, hearing impairment. [from GeneReviews]

Additional description

From OMIM
Low frequency sensorineural hearing loss is an unusual type of hearing loss in which frequencies of 2,000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high frequency hearing is generally preserved, LFSNHL patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high frequency loss later in life. LFSNHL worsens over time without progressing to profound deafness; in contrast, low frequency hearing loss linked to DFNA1 (124900), caused by mutations in the DIAPH1 gene (602121), is associated with progression to profound deafness by the fourth decade of life (summary by Bespalova et al., 2001).  http://www.omim.org/entry/600965

Clinical features

From HPO
Progressive sensorineural hearing impairment
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
Low-frequency sensorineural hearing impairment
MedGen UID:
816775
Concept ID:
C3810445
Finding
A form of sensorineural hearing impairment that affects primarily the lower frequencies.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J
Hum Genet 2022 Apr;141(3-4):889-901. Epub 2021 Sep 16 doi: 10.1007/s00439-021-02368-y. PMID: 34529116Free PMC Article
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free PMC Article

Recent clinical studies

Etiology

Kasakura-Kimura N, Masuda M, Mutai H, Masuda S, Morimoto N, Ogahara N, Misawa H, Sakamoto H, Saito K, Matsunaga T
Laryngoscope 2017 Sep;127(9):E324-E329. Epub 2017 Mar 8 doi: 10.1002/lary.26528. PMID: 28271504
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ
Am J Hum Genet 2014 Oct 2;95(4):445-53. Epub 2014 Sep 25 doi: 10.1016/j.ajhg.2014.09.001. PMID: 25262649Free PMC Article
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free PMC Article
Chen AH, Mueller RF, Prasad SD, Greinwald JH Jr, Manaligod J, Muilenburg AC, Verhoeven K, Van Camp G, Smith RJ
Arch Otolaryngol Head Neck Surg 1998 Jan;124(1):20-4. doi: 10.1001/archotol.124.1.20. PMID: 9440775
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Diagnosis

Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J
Hum Genet 2022 Apr;141(3-4):889-901. Epub 2021 Sep 16 doi: 10.1007/s00439-021-02368-y. PMID: 34529116Free PMC Article
Li Q, Liang P, Wang S, Li W, Wang J, Yang Y, An X, Chen J, Zha D
Mol Med Rep 2021 Jun;23(6) Epub 2021 Apr 13 doi: 10.3892/mmr.2021.12059. PMID: 33846771Free PMC Article
Chang KW
Otolaryngol Clin North Am 2015 Dec;48(6):1063-72. Epub 2015 Aug 11 doi: 10.1016/j.otc.2015.06.005. PMID: 26275501
Skvorak Giersch AB, Morton CC
Curr Opin Pediatr 1999 Dec;11(6):551-7. doi: 10.1097/00008480-199912000-00014. PMID: 10590915
Chen AH, Mueller RF, Prasad SD, Greinwald JH Jr, Manaligod J, Muilenburg AC, Verhoeven K, Van Camp G, Smith RJ
Arch Otolaryngol Head Neck Surg 1998 Jan;124(1):20-4. doi: 10.1001/archotol.124.1.20. PMID: 9440775

Therapy

Kim HJ, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW
PLoS One 2013;8(11):e79063. Epub 2013 Nov 18 doi: 10.1371/journal.pone.0079063. PMID: 24260153Free PMC Article

Prognosis

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
Li Q, Liang P, Wang S, Li W, Wang J, Yang Y, An X, Chen J, Zha D
Mol Med Rep 2021 Jun;23(6) Epub 2021 Apr 13 doi: 10.3892/mmr.2021.12059. PMID: 33846771Free PMC Article
Lee CG, Jang J, Jin HS
Mol Med Rep 2018 Jun;17(6):7611-7617. Epub 2018 Mar 29 doi: 10.3892/mmr.2018.8837. PMID: 29620237Free PMC Article
Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L
Am J Med Genet A 2008 Apr 15;146A(8):1017-25. doi: 10.1002/ajmg.a.32174. PMID: 18348273
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ
Am J Hum Genet 1997 May;60(5):1168-73. PMID: 9150164Free PMC Article

Clinical prediction guides

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J
Hum Genet 2022 Apr;141(3-4):889-901. Epub 2021 Sep 16 doi: 10.1007/s00439-021-02368-y. PMID: 34529116Free PMC Article
Li Q, Liang P, Wang S, Li W, Wang J, Yang Y, An X, Chen J, Zha D
Mol Med Rep 2021 Jun;23(6) Epub 2021 Apr 13 doi: 10.3892/mmr.2021.12059. PMID: 33846771Free PMC Article
Kim BJ, Han JH, Park HR, Kim MY, Kim AR, Oh SH, Park WY, Oh DY, Lee S, Choi BY
J Gene Med 2018 Jun;20(6):e3019. Epub 2018 Apr 30 doi: 10.1002/jgm.3019. PMID: 29607572
Verhoeven K, Van Camp G, Govaerts PJ, Balemans W, Schatteman I, Verstreken M, Van Laer L, Smith RJ, Brown MR, Van de Heyning PH, Somers T, Offeciers FE, Willems PJ
Am J Hum Genet 1997 May;60(5):1168-73. PMID: 9150164Free PMC Article

Recent systematic reviews

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article

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