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Hearing loss, autosomal recessive 115(DFNB115)

MedGen UID:
1681630
Concept ID:
C5193108
Disease or Syndrome
Synonym: Deafness, autosomal recessive 115
 
Gene (location): SPNS2 (17p13.2)
 
Monarch Initiative: MONDO:0032762
OMIM®: 618457

Definition

DFNB115 is characterized by severe sensorineural hearing impairment in early childhood (Ingham et al., 2019). [from OMIM]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Professional guidelines

PubMed

Chen LS, Yu CW, Li WJ, Hsieh WC, Li YP
J Hum Genet 2024 Apr;69(3-4):115-118. Epub 2023 Dec 22 doi: 10.1038/s10038-023-01212-7. PMID: 38135707
Frei K, Ramsebner R, Lucas T, Hamader G, Szuhai K, Weipoltshammer K, Baumgartner WD, Wachtler FJ, Kirschhofer K
Laryngoscope 2005 Mar;115(3):461-5. doi: 10.1097/01.mlg.0000157855.47143.71. PMID: 15744158

Recent clinical studies

Etiology

Chen LS, Yu CW, Li WJ, Hsieh WC, Li YP
J Hum Genet 2024 Apr;69(3-4):115-118. Epub 2023 Dec 22 doi: 10.1038/s10038-023-01212-7. PMID: 38135707
Breitsprecher TM, Pscheidl A, Bächinger D, Volkenstein S, Dhanasingh A, Van Rompaey V, Mlynski R, Dazert S, Van de Heyning P, Langner S, Roland P, Weiss NM
Otol Neurotol 2022 Sep 1;43(8):e814-e819. doi: 10.1097/MAO.0000000000003615. PMID: 35970155
Mey K, Muhamad AA, Tranebjaerg L, Rendtorff ND, Rasmussen SH, Bille M, Cayé-Thomasen P
Laryngoscope 2019 Nov;129(11):2574-2579. doi: 10.1002/lary.27319. PMID: 31633822
Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA
Mol Genet Metab 2015 Jun-Jul;115(2-3):128-140. Epub 2015 May 1 doi: 10.1016/j.ymgme.2015.04.007. PMID: 25943031Free PMC Article
Chen D, Chen X, Cao K, Zuo J, Jin X, Wei C, Fang F
ORL J Otorhinolaryngol Relat Spec 2009;71(4):212-5. Epub 2009 Aug 26 doi: 10.1159/000229300. PMID: 19707039

Diagnosis

El Fizazi K, Abbassi M, Nmer S, Laamarti H, ElAlami MN, Ouldim K, Bouguenouch L, Ridal M
Audiol Neurootol 2024;29(3):216-223. Epub 2024 Jan 22 doi: 10.1159/000535346. PMID: 38253033
Breitsprecher TM, Pscheidl A, Bächinger D, Volkenstein S, Dhanasingh A, Van Rompaey V, Mlynski R, Dazert S, Van de Heyning P, Langner S, Roland P, Weiss NM
Otol Neurotol 2022 Sep 1;43(8):e814-e819. doi: 10.1097/MAO.0000000000003615. PMID: 35970155
Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N
Invest Ophthalmol Vis Sci 2014 Oct 16;55(11):7369-75. doi: 10.1167/iovs.14-15458. PMID: 25324289
Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Domínguez-Ruiz M, García-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H
Am J Hum Genet 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012. PMID: 23122587Free PMC Article
Marres HA, Cremers CW
Arch Otolaryngol Head Neck Surg 1989 May;115(5):591-5. doi: 10.1001/archotol.1989.01860290049013. PMID: 2706105

Prognosis

Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N
Invest Ophthalmol Vis Sci 2014 Oct 16;55(11):7369-75. doi: 10.1167/iovs.14-15458. PMID: 25324289
Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H
Hum Genet 2004 Jul;115(2):149-56. Epub 2004 Jun 2 doi: 10.1007/s00439-004-1137-3. PMID: 15221449
Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE
J Med Genet 2003 Feb;40(2):115-21. doi: 10.1136/jmg.40.2.115. PMID: 12566520Free PMC Article

Clinical prediction guides

Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N
Invest Ophthalmol Vis Sci 2014 Oct 16;55(11):7369-75. doi: 10.1167/iovs.14-15458. PMID: 25324289
Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H
Hum Genet 2004 Jul;115(2):149-56. Epub 2004 Jun 2 doi: 10.1007/s00439-004-1137-3. PMID: 15221449

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