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Enlarged vestibular aqueduct syndrome(DFNB4)

MedGen UID:
355050
Concept ID:
C1863752
Finding; Finding
Synonyms: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; DFNB4; DILATED VESTIBULAR AQUEDUCT; FOXI1-Related Pendred Syndrome; KCNJ10-Related Pendred Syndrome; Large vestibular aqueduct syndrome; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; Pendred Syndrome/DFNB4; SLC26A4-Related Pendred Syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Genes (locations): FOXI1 (5q35.1); KCNJ10 (1q23.2); SLC26A4 (7q22.3)
OMIM®: 600791
HPO: HP:0011387

Definition

Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of hearing loss with or without other findings. Pendred syndrome is characterized by: severe-to-profound bilateral sensorineural hearing impairment that is usually congenital (or prelingual) and non-progressive; vestibular dysfunction; temporal bone abnormalities; and development of euthyroid goiter in late childhood to early adulthood. Variability of findings is considerable, even within the same family. DFNB4 is characterized by nonsyndromic sensorineural hearing impairment, vestibular dysfunction, and enlarged vestibular aqueduct (EVA). Thyroid defects are not seen in DFNB4. [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

Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Incomplete partition of the cochlea type II
MedGen UID:
387734
Concept ID:
C1857078
Finding
The cochlea is lacking the entire modiolus and cribriform area, resulting in a cystic appearance. This is accompanied by a large cystic vestibule.
Enlarged vestibular aqueduct syndrome
MedGen UID:
355050
Concept ID:
C1863752
Finding
Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of hearing loss with or without other findings. Pendred syndrome is characterized by: severe-to-profound bilateral sensorineural hearing impairment that is usually congenital (or prelingual) and non-progressive; vestibular dysfunction; temporal bone abnormalities; and development of euthyroid goiter in late childhood to early adulthood. Variability of findings is considerable, even within the same family. DFNB4 is characterized by nonsyndromic sensorineural hearing impairment, vestibular dysfunction, and enlarged vestibular aqueduct (EVA). Thyroid defects are not seen in DFNB4.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Conditions with this feature

Enlarged vestibular aqueduct syndrome
MedGen UID:
355050
Concept ID:
C1863752
Finding
Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of hearing loss with or without other findings. Pendred syndrome is characterized by: severe-to-profound bilateral sensorineural hearing impairment that is usually congenital (or prelingual) and non-progressive; vestibular dysfunction; temporal bone abnormalities; and development of euthyroid goiter in late childhood to early adulthood. Variability of findings is considerable, even within the same family. DFNB4 is characterized by nonsyndromic sensorineural hearing impairment, vestibular dysfunction, and enlarged vestibular aqueduct (EVA). Thyroid defects are not seen in DFNB4.

Recent clinical studies

Etiology

Zhang F, Bai X, Xiao Y, Zhang X, Zhang G, Li J, Xu L, Wang H
Int J Pediatr Otorhinolaryngol 2016 Jun;85:75-9. Epub 2016 Mar 22 doi: 10.1016/j.ijporl.2016.03.020. PMID: 27240500
Zhao FF, Lan L, Wang DY, Han B, Qi Y, Zhao Y, Zong L, Li Q, Wang QJ
Acta Otolaryngol 2013 Dec;133(12):1242-9. doi: 10.3109/00016489.2013.822555. PMID: 24245694
Wieczorek SS, Anderson ME Jr, Harris DA, Mikulec AA
Am J Otolaryngol 2013 Nov-Dec;34(6):619-25. Epub 2013 Sep 10 doi: 10.1016/j.amjoto.2013.07.015. PMID: 24028978
Ganaha A, Kaname T, Yanagi K, Naritomi K, Tono T, Usami S, Suzuki M
BMC Med Genet 2013 May 24;14:56. doi: 10.1186/1471-2350-14-56. PMID: 23705809Free PMC Article
Saliba I, Gingras-Charland ME, St-Cyr K, Décarie JC
Int J Pediatr Otorhinolaryngol 2012 Apr;76(4):492-9. Epub 2012 Jan 26 doi: 10.1016/j.ijporl.2012.01.004. PMID: 22281371

Diagnosis

Wieczorek SS, Anderson ME Jr, Harris DA, Mikulec AA
Am J Otolaryngol 2013 Nov-Dec;34(6):619-25. Epub 2013 Sep 10 doi: 10.1016/j.amjoto.2013.07.015. PMID: 24028978
Saliba I, Gingras-Charland ME, St-Cyr K, Décarie JC
Int J Pediatr Otorhinolaryngol 2012 Apr;76(4):492-9. Epub 2012 Jan 26 doi: 10.1016/j.ijporl.2012.01.004. PMID: 22281371
Mori T, Westerberg BD, Atashband S, Kozak FK
J Otolaryngol Head Neck Surg 2008 Feb;37(1):112-8. PMID: 18479637
Madden C, Halsted M, Benton C, Greinwald J, Choo D
Otol Neurotol 2003 Jul;24(4):625-32. PMID: 12851556
Welling DB, Martyn MD, Miles BA, Oehler M, Schmalbrock P
Am J Otol 1998 Mar;19(2):145-51. PMID: 9520049

Therapy

Yao J, Qian X, Bao J, Wei Q, Lu Y, Zheng H, Cao X, Xing G
Sci Rep 2015 Jun 2;5:10831. doi: 10.1038/srep10831. PMID: 26035154Free PMC Article
Kitahara T, Horii A, Mishiro Y, Kawashima T, Imai T, Nishiike S, Inohara H
Auris Nasus Larynx 2011 Apr;38(2):178-84. Epub 2010 Oct 20 doi: 10.1016/j.anl.2010.08.002. PMID: 20970268
Welling DB, Slater PW, Martyn MD, Antonelli PJ, Gantz BJ, Luxford WM, Shelton C
Am J Otol 1999 May;20(3):338-43. PMID: 10337975
Welling DB, Martyn MD, Miles BA, Oehler M, Schmalbrock P
Am J Otol 1998 Mar;19(2):145-51. PMID: 9520049

Prognosis

Zhao FF, Lan L, Wang DY, Han B, Qi Y, Zhao Y, Zong L, Li Q, Wang QJ
Acta Otolaryngol 2013 Dec;133(12):1242-9. doi: 10.3109/00016489.2013.822555. PMID: 24245694
Huang S, Han D, Wang G, Yuan Y, Song Y, Han M, Chen Z, Dai P
Int J Pediatr Otorhinolaryngol 2013 Mar;77(3):379-83. Epub 2012 Dec 21 doi: 10.1016/j.ijporl.2012.11.031. PMID: 23266159
Bajaj Y, Gibbins N, Fawkes K, Hartley B, Jephson C, Jonas N, Albert D, Bailey M, Wyatt M, Cochrane L
Cochlear Implants Int 2012 Aug;13(3):163-7. Epub 2011 Sep 23 doi: 10.1179/1754762811Y.0000000020. PMID: 22334127
Uetsuka S, Kitahara T, Horii A, Imai T, Uno A, Okazaki S, Kamakura T, Takimoto Y, Inohara H
Auris Nasus Larynx 2012 Aug;39(4):356-60. Epub 2011 Aug 20 doi: 10.1016/j.anl.2011.06.005. PMID: 21862256
Welling DB, Martyn MD, Miles BA, Oehler M, Schmalbrock P
Am J Otol 1998 Mar;19(2):145-51. PMID: 9520049

Clinical prediction guides

Palomeque Vera JM, Platero Sánchez-Escribano M, Gómez Hervás J, Fernández Prada M, González Ramírez AR, Sainz Quevedo M
Eur Arch Otorhinolaryngol 2016 Apr;273(4):893-8. Epub 2015 May 14 doi: 10.1007/s00405-015-3652-3. PMID: 25971996
Huang S, Han D, Wang G, Yuan Y, Song Y, Han M, Chen Z, Dai P
Int J Pediatr Otorhinolaryngol 2013 Mar;77(3):379-83. Epub 2012 Dec 21 doi: 10.1016/j.ijporl.2012.11.031. PMID: 23266159
Kitahara T, Horii A, Mishiro Y, Kawashima T, Imai T, Nishiike S, Inohara H
Auris Nasus Larynx 2011 Apr;38(2):178-84. Epub 2010 Oct 20 doi: 10.1016/j.anl.2010.08.002. PMID: 20970268
Song JJ, Choi HG, Oh SH, Chang SO, Kim CS, Lee JH
Otol Neurotol 2009 Aug;30(5):604-8. doi: 10.1097/MAO.0b013e3181ab9185. PMID: 19546828
Mori T, Westerberg BD, Atashband S, Kozak FK
J Otolaryngol Head Neck Surg 2008 Feb;37(1):112-8. PMID: 18479637

Recent systematic reviews

Mori T, Westerberg BD, Atashband S, Kozak FK
J Otolaryngol Head Neck Surg 2008 Feb;37(1):112-8. PMID: 18479637
Madden C, Halsted M, Benton C, Greinwald J, Choo D
Otol Neurotol 2003 Jul;24(4):625-32. PMID: 12851556

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