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Autosomal recessive nonsyndromic hearing loss 4(DFNB4)

MedGen UID:
761234
Concept ID:
C3538946
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 4; Deafness, autosomal recessive 4, with enlarged vestibular aqueduct; DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; DFNB4; Enlarged vestibular aqueduct, digenic; FOXI1-Related Pendred Syndrome; KCNJ10-Related Pendred Syndrome; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; Nonsyndromic enlarged vestibular aqueduct (NSEVA)
 
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
Increased size of the vestibular aqueduct.
Incomplete partition of the cochlea type II
MedGen UID:
892450
Concept ID:
C4025857
Finding
With 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.
Goiter
MedGen UID:
42270
Concept ID:
C0018021
Disease or Syndrome
An enlargement of the thyroid gland.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Hernandez-Nieto C, Alkon-Meadows T, Lee J, Cacchione T, Iyune-Cojab E, Garza-Galvan M, Luna-Rojas M, Copperman AB, Sandler B
Prenat Diagn 2020 Apr;40(5):635-643. Epub 2020 Feb 27 doi: 10.1002/pd.5656. PMID: 32003480
Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC
Ear Hear 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad. PMID: 19125024

Recent clinical studies

Etiology

Lin Y, Yu F, Jiao Y, Zhou F
J Int Adv Otol 2019 Aug;15(2):247-252. doi: 10.5152/iao.2019.6512. PMID: 31347505Free PMC Article
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443
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
He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X
Int J Pediatr Otorhinolaryngol 2017 Apr;95:104-108. Epub 2017 Feb 14 doi: 10.1016/j.ijporl.2017.02.013. PMID: 28576516
Volo T, Sathiyaseelan T, Astolfi L, Guaran V, Trevisi P, Emanuelli E, Martini A
Int J Pediatr Otorhinolaryngol 2013 Aug;77(8):1280-5. Epub 2013 Jun 14 doi: 10.1016/j.ijporl.2013.05.010. PMID: 23751281

Diagnosis

Zheng K, Lin S, Gao J, Chen S, Su J, Liu Z, Duan S
BMC Med Genomics 2024 Jan 2;17(1):4. doi: 10.1186/s12920-023-01777-4. PMID: 38167320Free PMC Article
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443
Atik T, Onay H, Aykut A, Bademci G, Kirazli T, Tekin M, Ozkinay F
PLoS One 2015;10(11):e0142154. Epub 2015 Nov 11 doi: 10.1371/journal.pone.0142154. PMID: 26561413Free PMC Article
Seco CZ, Oonk AM, Domínguez-Ruiz M, Draaisma JM, Gandía M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M
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Zhao J, Yuan Y, Huang S, Huang B, Cheng J, Kang D, Wang G, Han D, Dai P
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Prognosis

Zheng K, Lin S, Gao J, Chen S, Su J, Liu Z, Duan S
BMC Med Genomics 2024 Jan 2;17(1):4. doi: 10.1186/s12920-023-01777-4. PMID: 38167320Free PMC Article
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Int J Pediatr Otorhinolaryngol 2018 Apr;107:97-100. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.037. PMID: 29501320
He X, Peng Q, Li S, Zhu P, Wu C, Rao C, Chang J, Xie M, Zhong B, Lu X
Int J Pediatr Otorhinolaryngol 2017 Apr;95:104-108. Epub 2017 Feb 14 doi: 10.1016/j.ijporl.2017.02.013. PMID: 28576516
Kim SY, Kim AR, Kim NK, Lee C, Han JH, Kim MY, Jeon EH, Park WY, Mittal R, Yan D, Liu XZ, Choi BY
J Gene Med 2016 Nov;18(11-12):353-358. doi: 10.1002/jgm.2935. PMID: 27886419Free PMC Article
Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL
Eur J Hum Genet 2009 May;17(5):554-64. Epub 2008 Dec 24 doi: 10.1038/ejhg.2008.231. PMID: 19107147Free PMC Article

Clinical prediction guides

Zheng K, Lin S, Gao J, Chen S, Su J, Liu Z, Duan S
BMC Med Genomics 2024 Jan 2;17(1):4. doi: 10.1186/s12920-023-01777-4. PMID: 38167320Free PMC Article
Bademci G, Lachgar-Ruiz M, Deokar M, Zafeer MF, Abad C, Yildirim Baylan M, Ingham NJ, Chen J, Sineni CJ, Vadgama N, Karakikes I, Guo S, Duman D, Singh N, Harlalka G, Jain SP, Chioza BA, Walz K, Steel KP, Nasir J, Tekin M
Proc Natl Acad Sci U S A 2022 Jun 28;119(26):e2204084119. Epub 2022 Jun 21 doi: 10.1073/pnas.2204084119. PMID: 35727972Free PMC Article
Gao X, Huang SS, Yuan YY, Xu JC, Gu P, Bai D, Kang DY, Han MY, Wang GJ, Zhang MG, Li J, Dai P
Neural Plast 2017;2017:3192090. Epub 2017 Jun 13 doi: 10.1155/2017/3192090. PMID: 28695016Free PMC Article
Seco CZ, Oonk AM, Domínguez-Ruiz M, Draaisma JM, Gandía M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M
Eur J Hum Genet 2015 Feb;23(2):189-94. Epub 2014 Apr 30 doi: 10.1038/ejhg.2014.83. PMID: 24781754Free PMC Article
Tariq A, Santos RL, Khan MN, Lee K, Hassan MJ, Ahmad W, Leal SM
J Mol Med (Berl) 2006 Jun;84(6):484-90. Epub 2006 May 4 doi: 10.1007/s00109-005-0023-3. PMID: 16596430Free PMC Article

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