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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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population.
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
GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.
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

Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population.
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
Cochlear and Vestibular Volumes in Inner Ear Malformations.
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
Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.
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
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
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
High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipients.
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

Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population.
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
Cochlear and Vestibular Volumes in Inner Ear Malformations.
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
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
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
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
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
Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers.
Marres HA, Cremers CW
Arch Otolaryngol Head Neck Surg 1989 May;115(5):591-5. doi: 10.1001/archotol.1989.01860290049013. PMID: 2706105

Prognosis

Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
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
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
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
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.
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

Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
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
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
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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    • ClinVar
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      OMIM records containing genes associated with phenotypes registered in MedGen
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