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Enlarged vestibular aqueduct syndrome(DFNB4)

MedGen UID:
355050
Concept ID:
C1863752
Disease or Syndrome
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
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Genes (locations): FOXI1 (5q35.1); KCNJ10 (1q23.2); SLC26A4 (7q22.3)
OMIM®: 600791

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

Incomplete partition of the cochlea type II
MedGen UID:
387734
Concept ID:
C1857078
Finding
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Enlarged vestibular aqueduct
MedGen UID:
506570
Concept ID:
CN167115
Finding
Increased size of the vestibular aqueduct.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Recent clinical studies

Etiology

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 22281371
Belenky WM, Madgy DN, Leider JS, Becker CJ, Hotaling AJ
Ear Nose Throat J 1993 Nov;72(11):746-51. PMID: 8261931

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. [Epub ahead of print] 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. [Epub ahead of print] 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
Belenky WM, Madgy DN, Leider JS, Becker CJ, Hotaling AJ
Ear Nose Throat J 1993 Nov;72(11):746-51. PMID: 8261931

Therapy

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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

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. [Epub ahead of print] 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. [Epub ahead of print] 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
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

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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