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Hearing loss, autosomal recessive 112(DFNB112)

MedGen UID:
1648378
•Concept ID:
C4748855
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 112
 
Gene (location): BDP1 (5q13.2)
 
Monarch Initiative: MONDO:0032639
OMIM®: 618257

Definition

DFNB112 is characterized by postlingual progressive sensorineural hearing impairment (Girotto et al., 2013). [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

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ
Hum Mutat 2001 May;17(5):403-11. doi: 10.1002/humu.1116. PMID: 11317356

Recent clinical studies

Therapy

A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.
Liu Y, Wang L, Feng Y, He C, Liu D, Cai X, Jiang L, Chen H, Liu C, Wu H, Mei L
PLoS One 2016;11(12):e0168508. Epub 2016 Dec 20 doi: 10.1371/journal.pone.0168508. PMID: 27997596Free PMC Article

Prognosis

Variations in the cochlear implant experience in children with enlarged vestibular aqueduct.
Pritchett C, Zwolan T, Huq F, Phillips A, Parmar H, Ibrahim M, Thorne M, Telian S
Laryngoscope 2015 Sep;125(9):2169-74. Epub 2015 Feb 3 doi: 10.1002/lary.25187. PMID: 25647353
Successful cochlear implantation in prelingual profound deafness resulting from the common 233delC mutation of the GJB2 gene in the Japanese.
Matsushiro N, Doi K, Fuse Y, Nagai K, Yamamoto K, Iwaki T, Kawashima T, Sawada A, Hibino H, Kubo T
Laryngoscope 2002 Feb;112(2):255-61. doi: 10.1097/00005537-200202000-00011. PMID: 11889380
Hearing loss in the RBF/DnJ mouse, a proposed animal model of Usher syndrome type IIa.
Pieke-Dahl S, Ohlemiller KK, McGee J, Walsh EJ, Kimberling WJ
Hear Res 1997 Oct;112(1-2):1-12. doi: 10.1016/s0378-5955(97)00087-7. PMID: 9367224

Clinical prediction guides

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.
Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, Abedini SS, Bahman I, Jamali P, Azimi S, Mojahedi F, Dehghan A, Shafeghati Y, Jankhah A, Falah M, Soltani Banavandi MJ, Ghani M, Garshasbi M, Rakhshani F, Naghavi A, Tzschach A, Neitzel H, Ropers HH, Kuss AW, Behjati F, Kahrizi K, Najmabadi H
J Med Genet 2010 Dec;47(12):823-8. Epub 2010 Oct 26 doi: 10.1136/jmg.2009.076398. PMID: 20978018
Functional study of GJB2 in hereditary hearing loss.
Choung YH, Moon SK, Park HJ
Laryngoscope 2002 Sep;112(9):1667-71. doi: 10.1097/00005537-200209000-00026. PMID: 12352684
A novel connexin 26 compound heterozygous mutation results in deafness.
Harris KC, Erbe CB, Firszt JB, Flanary VA, Wackym PA
Laryngoscope 2002 Jul;112(7 Pt 1):1159-62. doi: 10.1097/00005537-200207000-00003. PMID: 12169891
Hearing loss in the RBF/DnJ mouse, a proposed animal model of Usher syndrome type IIa.
Pieke-Dahl S, Ohlemiller KK, McGee J, Walsh EJ, Kimberling WJ
Hear Res 1997 Oct;112(1-2):1-12. doi: 10.1016/s0378-5955(97)00087-7. PMID: 9367224

Recent systematic reviews

Cochlear implantation in adults and pediatrics with enlarged vestibular aqueduct: a systematic review on the surgical findings and patients' performance.
Alahmadi A, Abdelsamad Y, Salamah M, Alenzi S, Badr KM, Alghamdi S, Alsanosi A
Eur Arch Otorhinolaryngol 2022 Dec;279(12):5497-5509. Epub 2022 Jun 30 doi: 10.1007/s00405-022-07511-7. PMID: 35771280

Supplemental Content

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    Clinical resources

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    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
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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