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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

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

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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