Familial isolated unilateral large vestibular aqueduct syndrome.
Large vestibular aqueduct syndrome (LVAS) is one of the most frequent inner ear malformations. It is associated with varying degrees of hearing loss, that may be progressive, sudden or fluctuant; nevertheless normal hearing in cases with LVAS has been described. Although unilateral LVAS has been described, all patients show clinical and radiological findings in both ears, in contrast to the family presented here, where 2 siblings are affected by unilateral sensorineural hearing loss associated with ipsilateral LVAS, with an autosomal recessive pattern. In order to search for the origin of this inner ear malformation, mutations in genes GJB2 (connexin-26 gene), PDS (Pendred's syndrome gene) and mitochondrial 12sRNA were studied, without positive results. In this paper we hypothesize the probable embryological origin for this malformation.
Ramírez-Camacho
Rafael
R
Grupo de Investigación Otológica, Servicio de Otorrinolaringología, Clínica Puerta de Hierro, Madrid, España. rramirezc@seorl.org
Ramón García Berrocal
José
J
Arellano
Beatriz
B
Trinidad
Almudena
A
D000293:Adolescent; D000328:Adult; D001301:Audiometry, Pure-Tone; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D010375:Pedigree; D013067:Speech Perception; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014723:Vestibular Aqueduct / Q000002:abnormalities* / Q000000981:diagnostic imaging; D015837:Vestibular Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26