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Hearing loss, autosomal recessive 113(DFNB113)

MedGen UID:
1674289
•Concept ID:
C5193079
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 113
 
Gene (location): CEACAM16 (19q13.31-13.32)
 
Monarch Initiative: MONDO:0032732
OMIM®: 618410

Definition

DFNB113 is characterized by postlingual progressive hearing impairment (Booth et al., 2018). [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
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

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
A nationwide study on enlargement of the vestibular aqueduct in Japan.
Noguchi Y, Fukuda S, Fukushima K, Gyo K, Hara A, Nakashima T, Ogawa K, Okamoto M, Sato H, Usami SI, Yamasoba T, Yokoyama T, Kitamura K
Auris Nasus Larynx 2017 Feb;44(1):33-39. Epub 2016 May 6 doi: 10.1016/j.anl.2016.04.012. PMID: 27160786
Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile.
Cifuentes L, Arancibia M, Torrente M, Acuña M, Farfán C, Ríos C
Biol Res 2013;46(3):239-42. doi: 10.4067/S0716-97602013000300003. PMID: 24346070
Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children.
Hayashi C, Funayama M, Li Y, Kamiya K, Kawano A, Suzuki M, Hattori N, Ikeda K
Int J Pediatr Otorhinolaryngol 2011 Feb;75(2):211-4. Epub 2010 Nov 26 doi: 10.1016/j.ijporl.2010.11.001. PMID: 21112098
Familial auditory neuropathy.
Wang Q, Gu R, Han D, Yang W
Laryngoscope 2003 Sep;113(9):1623-9. doi: 10.1097/00005537-200309000-00041. PMID: 12972945

Diagnosis

A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.
Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J
Gene 2019 Jul 1;704:113-120. Epub 2019 Apr 8 doi: 10.1016/j.gene.2019.04.008. PMID: 30974196
Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.
Salime S, Charif M, Bousfiha A, Elrharchi S, Bakhchane A, Charoute H, Kabine M, Snoussi K, Lenaers G, Barakat A
Int J Pediatr Otorhinolaryngol 2017 Oct;101:25-29. Epub 2017 Jul 21 doi: 10.1016/j.ijporl.2017.07.024. PMID: 28964305
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T, Shekari Khaniani M, Zarei F, Farbodnia M, Mansoori Derakhshan S
Int J Pediatr Otorhinolaryngol 2017 Jun;97:113-126. Epub 2017 Apr 6 doi: 10.1016/j.ijporl.2017.04.007. PMID: 28483220
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.
Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ
Hum Mutat 2007 Jun;28(6):571-7. doi: 10.1002/humu.20478. PMID: 17301963
Familial auditory neuropathy.
Wang Q, Gu R, Han D, Yang W
Laryngoscope 2003 Sep;113(9):1623-9. doi: 10.1097/00005537-200309000-00041. PMID: 12972945

Prognosis

A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.
Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J
Gene 2019 Jul 1;704:113-120. Epub 2019 Apr 8 doi: 10.1016/j.gene.2019.04.008. PMID: 30974196
Acoustically evoked short latency negative responses in hearing loss patients with enlarged vestibular aqueduct.
Liu L, Yang B
Acta Neurol Belg 2013 Jun;113(2):157-60. Epub 2012 Oct 2 doi: 10.1007/s13760-012-0138-6. PMID: 23055113
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.
Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ
Hum Mutat 2007 Jun;28(6):571-7. doi: 10.1002/humu.20478. PMID: 17301963

Clinical prediction guides

A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.
Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J
Gene 2019 Jul 1;704:113-120. Epub 2019 Apr 8 doi: 10.1016/j.gene.2019.04.008. PMID: 30974196
Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome.
Sato A, Arimura T, Makita N, Ishikawa T, Aizawa Y, Ushinohama H, Aizawa Y, Kimura A
J Biol Chem 2009 Dec 11;284(50):35122-33. Epub 2009 Oct 13 doi: 10.1074/jbc.M109.017293. PMID: 19825999Free PMC Article
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.
Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ
Hum Mutat 2007 Jun;28(6):571-7. doi: 10.1002/humu.20478. PMID: 17301963
Familial auditory neuropathy.
Wang Q, Gu R, Han D, Yang W
Laryngoscope 2003 Sep;113(9):1623-9. doi: 10.1097/00005537-200309000-00041. PMID: 12972945

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    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

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