A candidate gene for Branchio-Oto-Renal (BOR) syndrome was identified at chromosome 8q13.3 by positional cloning and shown to underlie the disease. This gene is a human homologue of the Drosophila eyes absent gene (eya), and was therefore called EYA1. A highly conserved 271-amino acid C-terminal region was also found in the products of two other human genes (EYA2 and EYA3), demonstrating the existence of a novel gene family. The expression pattern of the murine EYA1 orthologue, Eya1, suggests a role in the development of all components of the inner ear, from the emergence of the otic placode. In the developing kidney, the expression pattern is indicative of a role for Eya1 in the metanephric cells surrounding the 'just-divided' ureteric branches.

Branchiootorenal (BOR) syndrome is a variable, autosomal-dominant disorder of the first and second embryonic branchial arches, kidneys, and urinary tract. We describe the phenotype in 45 individuals, highlighting differences and similarities reported in other studies. Characteristic temporal bone findings include cochlear hypoplasia (4/5 of normal size with only 2 turns), dilation of the vestibular aqueduct, bulbous internal auditory canals, deep posterior fossae, and acutely-angled promontories.

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The value of computed tomography (CT) of the petrous bone in the investigation of congenital sensorineural hearing impairment has been questioned. We have conducted a study to establish the usefulness of CT of the temporal bone in the evaluation and management of a consecutive series of unselected adolescent patients with congenital sensorineural hearing impairment of greater than 50 dB HL. Seventy-one patients (142 ears) were identified and images reviewed to establish the incidence of inner ear malformations. Fifteen ears were found to be abnormal in eight patients (seven bilateral and one unilateral abnormality). Three patients had Mondini abnormalities and one of these also had dilatation of the lateral semicircular canals. There were five patients with dilatation of the vestibular aqueduct. One patient had a unilateral dysplasia of the middle and external ear. A variety of incidental intracranial abnormalities were also discovered. We conclude that CT does have a valuable role in the management of SNHI.

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Békésy and audioscan sweep audiometry tests were carried out in 24 presumed obligate carriers of autosomal recessive non-syndromic hearing loss and 30 sex and age appropriate controls, with a view to defining the most expedient criteria for dips on either test in respect of possible carrier detection. On Békésy, dips with a minimum depth of 22.5 dB generated the greatest difference between carriers and non-carriers, while on audioscan, the criterion of a minimum dip depth of 15 dB provided the best discriminant. Using these criteria, the prevalence of dips was also evaluated in 8 unaffected siblings and 24 age appropriate control subjects. The findings both in the adult and the paediatric groups do not support the hypothesis that the presence of dips, either on Békésy or audioscan, is linked to the carrier state in ARNSHL.

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