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Deafness, autosomal recessive 4, with enlarged vestibular aqueduct(DFNB4)

MedGen UID:
761234
Concept ID:
C3538946
Disease or Syndrome
Synonyms: Autosomal recessive nonsyndromic deafness 4; DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; DFNB4; FOXI1-Related Pendred Syndrome; KCNJ10-Related Pendred Syndrome; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; Nonsyndromic enlarged vestibular aqueduct (NSEVA)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Genes (locations): FOXI1 (5q35.1); KCNJ10 (1q23.2); SLC26A4 (7q22.3)
 
Monarch Initiative: MONDO:0010933
OMIM®: 600791

Definition

Pendred syndrome/nonsyndromic enlarged vestibular aqueduct (PDS/NSEVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL) that is usually congenital and often severe to profound (although mild-to-moderate progressive hearing impairment also occurs), vestibular dysfunction, and temporal bone abnormalities (bilateral enlarged vestibular aqueduct with or without cochlear hypoplasia). PDS also includes development of euthyroid goiter in late childhood to early adulthood whereas NSEVA does not. [from GeneReviews]

Additional description

From OMIM
DFNB4 with enlarged vestibular aqueduct is characterized by pre- or perilingual onset of sensorineural or mixed hearing loss, which may be fluctuating or progressive. The hearing loss is associated with temporal bone abnormalities, most commonly enlargement of the vestibular aqueduct, but it can also include the more severe Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns (summary by Campbell et al., 2001 and Pryor et al., 2005). Enlarged vestibular aqueduct is the most common form of inner ear abnormality and can be associated with disequilibrium symptoms in a minority of patients (Valvassori, 1983; Jackler and de la Cruz, 1989; Levenson et al., 1989; Arcand et al., 1991; Belenky et al., 1993; Okumura et al., 1995).  http://www.omim.org/entry/600791

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.
Enlarged vestibular aqueduct syndrome
MedGen UID:
355050
Concept ID:
C1863752
Finding
Incomplete partition of the cochlea type II
MedGen UID:
892450
Concept ID:
C4025857
Finding
IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

van Beeck Calkoen EA, Pennings RJE, Smits J, Pegge S, Rotteveel LJC, Merkus P, Verbist BM, Sanchez E, Hensen EF
Int J Pediatr Otorhinolaryngol 2021 Nov;150:110891. Epub 2021 Aug 19 doi: 10.1016/j.ijporl.2021.110891. PMID: 34425354
Reynard P, Ionescu E, Joly CA, Ltaief-Boudrigua A, Coudert A, Thai-Van H
Int J Pediatr Otorhinolaryngol 2021 Feb;141:110557. Epub 2020 Dec 16 doi: 10.1016/j.ijporl.2020.110557. PMID: 33341717
Saeed HS, Kenth J, Black G, Saeed SR, Stivaros S, Bruce IA
Otol Neurotol 2021 Jan;42(1):99-107. doi: 10.1097/MAO.0000000000002843. PMID: 33026783
Forli F, Lazzerini F, Auletta G, Bruschini L, Berrettini S
Eur Arch Otorhinolaryngol 2021 Jul;278(7):2305-2312. Epub 2020 Sep 10 doi: 10.1007/s00405-020-06333-9. PMID: 32910226Free PMC Article
Han JW, Wang L, Zhao H, Yang SM
Acta Otolaryngol 2020 Oct;140(10):813-817. Epub 2020 Jul 14 doi: 10.1080/00016489.2020.1780312. PMID: 32662706

Diagnosis

van Beeck Calkoen EA, Pennings RJE, Smits J, Pegge S, Rotteveel LJC, Merkus P, Verbist BM, Sanchez E, Hensen EF
Int J Pediatr Otorhinolaryngol 2021 Nov;150:110891. Epub 2021 Aug 19 doi: 10.1016/j.ijporl.2021.110891. PMID: 34425354
Saeed HS, Kenth J, Black G, Saeed SR, Stivaros S, Bruce IA
Otol Neurotol 2021 Jan;42(1):99-107. doi: 10.1097/MAO.0000000000002843. PMID: 33026783
Van Beck J, Chinnadurai S, Morrison AK, Zuniga MG, Smith B, Lohse CM, McCaslin D
Int J Pediatr Otorhinolaryngol 2020 May;132:109909. Epub 2020 Feb 4 doi: 10.1016/j.ijporl.2020.109909. PMID: 32032917
Mey K, Percy-Smith L, Hallstrøm M, Sandvej M, Cayé-Thomasen P
Acta Otolaryngol 2020 Jan;140(1):46-50. Epub 2019 Nov 23 doi: 10.1080/00016489.2019.1689293. PMID: 31762351
Macielak RJ, Mattingly JK, Findlen UM, Moberly AC, Malhotra PS, Adunka OF
Int J Pediatr Otorhinolaryngol 2019 May;120:25-29. Epub 2019 Jan 25 doi: 10.1016/j.ijporl.2019.01.034. PMID: 30753978

Therapy

Mikkelsen KS, Tranebjærg L, Mey K
Cochlear Implants Int 2019 Mar;20(2):100-103. Epub 2018 Nov 28 doi: 10.1080/14670100.2018.1550849. PMID: 30484383
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
Musser AB, Golub JS, Samy RN, Phero JC
Cochlear Implants Int 2016;17(2):116-9. Epub 2016 Feb 5 doi: 10.1080/14670100.2015.1112571. PMID: 26843205
Manzoor NF, Wick CC, Wahba M, Gupta A, Piper R, Murray GS, Otteson T, Megerian CA, Semaan MT
Otol Neurotol 2016 Feb;37(2):e96-103. doi: 10.1097/MAO.0000000000000925. PMID: 26756161
Lu YJ, Yao J, Wei QJ, Xing GQ, Cao X
Medicine (Baltimore) 2015 Dec;94(50):e2248. doi: 10.1097/MD.0000000000002248. PMID: 26683941Free PMC Article

Prognosis

Reynard P, Ionescu E, Joly CA, Ltaief-Boudrigua A, Coudert A, Thai-Van H
Int J Pediatr Otorhinolaryngol 2021 Feb;141:110557. Epub 2020 Dec 16 doi: 10.1016/j.ijporl.2020.110557. PMID: 33341717
Saeed HS, Kenth J, Black G, Saeed SR, Stivaros S, Bruce IA
Otol Neurotol 2021 Jan;42(1):99-107. doi: 10.1097/MAO.0000000000002843. PMID: 33026783
Van Beck J, Chinnadurai S, Morrison AK, Zuniga MG, Smith B, Lohse CM, McCaslin D
Int J Pediatr Otorhinolaryngol 2020 May;132:109909. Epub 2020 Feb 4 doi: 10.1016/j.ijporl.2020.109909. PMID: 32032917
Liang Y, Peng Q, Wang K, Zhu P, Wu C, Rao C, Chang J, Li S, Lu X
Int J Pediatr Otorhinolaryngol 2018 Apr;107:97-100. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.037. PMID: 29501320
Ahadizadeh E, Ascha M, Manzoor N, Gupta A, Semaan M, Megerian C, Otteson T
Am J Otolaryngol 2017 Nov - Dec;38(6):692-697. Epub 2017 Jun 23 doi: 10.1016/j.amjoto.2017.06.010. PMID: 28793961

Clinical prediction guides

Reynard P, Ionescu E, Joly CA, Ltaief-Boudrigua A, Coudert A, Thai-Van H
Int J Pediatr Otorhinolaryngol 2021 Feb;141:110557. Epub 2020 Dec 16 doi: 10.1016/j.ijporl.2020.110557. PMID: 33341717
Saeed HS, Kenth J, Black G, Saeed SR, Stivaros S, Bruce IA
Otol Neurotol 2021 Jan;42(1):99-107. doi: 10.1097/MAO.0000000000002843. PMID: 33026783
Forli F, Lazzerini F, Auletta G, Bruschini L, Berrettini S
Eur Arch Otorhinolaryngol 2021 Jul;278(7):2305-2312. Epub 2020 Sep 10 doi: 10.1007/s00405-020-06333-9. PMID: 32910226Free PMC Article
Riggs WJ, Hiss MM, Varadarajan VV, Mattingly JK, Adunka OF
Int J Pediatr Otorhinolaryngol 2020 Jul;134:110065. Epub 2020 Apr 24 doi: 10.1016/j.ijporl.2020.110065. PMID: 32361253
Van Beck J, Chinnadurai S, Morrison AK, Zuniga MG, Smith B, Lohse CM, McCaslin D
Int J Pediatr Otorhinolaryngol 2020 May;132:109909. Epub 2020 Feb 4 doi: 10.1016/j.ijporl.2020.109909. PMID: 32032917

Recent systematic reviews

Saeed HS, Kenth J, Black G, Saeed SR, Stivaros S, Bruce IA
Otol Neurotol 2021 Jan;42(1):99-107. doi: 10.1097/MAO.0000000000002843. PMID: 33026783
Noordman BJ, van Beeck Calkoen E, Witte B, Goverts T, Hensen E, Merkus P
Otol Neurotol 2015 Jan;36(1):4-11. doi: 10.1097/MAO.0000000000000659. PMID: 25406869

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