Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome

Figure 1

Pedigree, genotype, and phenotype characterization of the family. (a) Pedigree, genotype, and audiograms. Proband II-1 is pointed by the black arrow, and hearing loss is indicated by the black square. The audiograms showed profound sensorineural hearing loss in II-1 and normal hearing loss in his parents. (b) Right cup-shaped outer ear is showed by a black arrow in b1; two white arrows in b1 and b2 indicate bilateral surgical scars of preauricular fistula and cervical branchial cyst, respectively. (c) Findings in temporal HRCT: c1: bilateral lower external auditory canals; c2: white solid and grey dotted arrows indicate cochlear hypoplasia and overgasification of mastoid cells, respectively; c3: malformed semicircular canal; c4: deformed ossicular chain.

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