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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 impairment
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

Etiology

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
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Akgun A, Sen A, Onal H
J Pediatr Endocrinol Metab 2021 Nov 25;34(11):1425-1433. Epub 2021 Aug 26 doi: 10.1515/jpem-2021-0242. PMID: 34448386
Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.
Mehregan H, Mohseni M, Akbari M, Jalalvand K, Arzhangi S, Nikzat N, Kahrizi K, Najmabadi H
Arch Iran Med 2019 Apr 1;22(4):189-197. PMID: 31126177
Decreased disulphide/thiol ratio in patients with autosomal recessive non-syndromic hearing loss.
Balta B, Gundogdu R, Erdogan M, Alisik M, Kiraz A, Ozcan I, Erel O
Int J Pediatr Otorhinolaryngol 2018 Sep;112:188-192. Epub 2018 Jul 10 doi: 10.1016/j.ijporl.2018.07.014. PMID: 30055731
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

Diagnosis

Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Akgun A, Sen A, Onal H
J Pediatr Endocrinol Metab 2021 Nov 25;34(11):1425-1433. Epub 2021 Aug 26 doi: 10.1515/jpem-2021-0242. PMID: 34448386
Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome.
Thimm A, Rahal A, Schoen U, Abicht A, Klebe S, Kleinschnitz C, Hagenacker T, Stettner M
J Peripher Nerv Syst 2020 Jun;25(2):112-116. Epub 2020 Feb 24 doi: 10.1111/jns.12367. PMID: 32077159
Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province.
Talbi S, Bonnet C, Riahi Z, Boudjenah F, Dahmani M, Hardelin JP, Wong Jun Tai F, Louha M, Ammar-Khodja F, Petit C
Int J Pediatr Otorhinolaryngol 2018 Sep;112:1-5. Epub 2018 Jun 12 doi: 10.1016/j.ijporl.2018.06.012. PMID: 30055715
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
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.
Van Balkom ID, Alders M, Allanson J, Bellini C, Frank U, De Jong G, Kolbe I, Lacombe D, Rockson S, Rowe P, Wijburg F, Hennekam RC
Am J Med Genet 2002 Nov 1;112(4):412-21. doi: 10.1002/ajmg.10707. PMID: 12376947

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

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    • ClinVar
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      Related information in NCBI Gene
    • GTR
      Related information in GTR
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      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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